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We report on our experience of using a short, moulded metacarpal cast over a 4-year period in the non-surgical management of metacarpal shaft fractures. Between 6 April 2015 and 6 April 2019, 117 patients were treated using this method. The majority were male, and the mean age was 24.6 years. The most common mechanism of injury was a punch injury (73 patients, 62%). Fifteen patients (13%) were treated for multiple metacarpal fractures. Immediately after cast removal, 68% had a full range of finger movement and 68% were pain free. Few required formal hand therapy. Fifteen patients experienced minor complications, primarily soft tissue irritation from the cast and non-limiting extensor lag. The moulded short metacarpal cast is an effective non-surgical treatment for angulated extra-articular metacarpal fractures of the diaphysis and diametaphyseal junction. Level of evidence: IV

Turner-syndrome is a genetic disorder that involves X-chromosome, and affects about 2500–3000 newborn girls around the world. The disease is accompanied by numerous clinical and morphological characteristics, therefore it is very important to study Turner-syndrome patients’ developmental pattern. The main aim of the study was to examine the relationship between the morphological characteristics, the karyotype and the type of treatment of patients with Turner's syndrome. Twenty girls and women with Turner-syndrome were studied. The presence or the absence of the morphological characteristics (cubitus valgus, webbed neck, low hairline, four finger crease, short metacarpals and -tarsals, vision problems, low-set ears, spinal malformations, dental malformations) was recorded. The strength of the relationship between the frequency of the examined morphological features and the type of karyotype or treatment was analysed by Fisher’s exact test. Cubitus valgus, low-set ears, and dental malformations were the most common morphological abnormalities. Webbed neck, four finger crease and short metacarpals and -tarsals showed significant correlation with the karyotype. We didn’t find any correlation of morphological characteristics with the hormone treatment.

Desbuquois dysplasia (DBQD) is a rare skeletal dysplasia characterized by severe short stature, laxity, dislocation of multiple joints and developmental delay. DBQD is clinically heterogeneous. Distinct radiographic hand abnormalities such as the presence of extra-ossification distal to the second metacarpal or normal hand has led to its classification into types 1 and 2. Furthermore, the third type of DBQD, Kim type has been reported which is characterized by short metacarpals and elongated phalanges. However, DBQD Kim type has been exclusively reported in Japanese and Korean and its clinical characteristics remain to be delineated. Mutations in the calcium-activated nucleotidase 1 (CANT1) gene have been reported in all three types of DBQD. Previously reported patients with DBQD Kim type had a common mutation c.676G>A (p.Val226Met), which had a common founder between Japanese and Korean. Here, we report 3 Indian patients with DBQD, Kim type from 2 families which were unrelated to each other. We identified a novel mutation of CANT1, c.467C>T (p.Ser156Phe), in all the patients in the homozygous form. Our results show that DBQD Kim type is not exclusive to East Asians and also report a novel mutation from the Indian subcontinent.

Among the ecomorphologically diverse Octodontoidea rodents, fossorial habits are prevalent in Ctenomyidae and Octodontidae and occur in some members of Echimyidae. To detect traits linked to scratch-digging, we analyzed morpho-structural variation in the carpus and metacarpus of 27 species of extinct and living octodontoids with epigean, fossorial and subterranean habits. Within a context of relative morphological uniformity, we detected the following specialized traits in the burrowing Clyomys (Echimyidae), Spalacopus (Octodontidae), Ctenomys and †Eucelophorus (Ctenomyidae): broad shortened carpus, robust metacarpals, markedly broad and short metacarpal V, and predominance of ray III (mesaxony, incipient in Spalacopus). In addition, the specialized subterranean Ctenomys presented an enlarged scapholunar in extensive contact with the unciform, and with a complex-shaped proximal articular surface. These features are interpreted as responses to mechanical requirements of scratch-digging, providing greater carpal rigidity and resistance to direct forces exerted during the digging stroke. In Ctenomys, the radius-scapholunar joint restricts movement at wrist level. The phylogenetic distribution of traits shows that the most derived carpal and metacarpal morphologies occur among subterranean octodontoids, also possessing important craniodental adaptations, and supports the hypothesis that the acquisition of digging specializations would have been linked to increasing burrowing frequency in some lineages. Nevertheless, octodontoids with less morphological specializations have metacarpal modifications advantageous for digging, suggesting that scratch-digging specialization preceded the acquisition of tooth-digging traits, in agreement with the general claim that scratch-digging is the primary digging strategy in burrowing mammals.

Background Desbuquois dysplasia (DD) is a recessively inherited condition characterised by short stature, generalised skeletal dysplasia and advanced bone maturation. DD is both clinically and radiographically heterogeneous, and two subtypes have been distinguished based on the presence (type 1) or absence (type 2) of an accessory metacarpal bone. In addition, an apparently distinct variant without additional metacarpal bone but with short metacarpals and long phalanges (Kim variant) has been described recently. Mutations in the gene that encodes for CANT1 (calcium-activated nucleotidase 1) have been identified in a subset of patients with DD type 1. Methods A series of 11 subjects with DD from eight families (one type 1, two type 2, five Kim variant) were examined for CANT1 mutations by direct sequencing of all coding exons and their flanking introns. Results Eight distinct mutations were identified in seven families (one type 1, one type 2 and all 5 Kim variant): three were nonsense and five were missense. All missense mutations occurred at highly conserved amino acids in the nucleotidase conserved regions of CANT1. Measurement of nucleotidase activity in vitro showed that the missense mutations were all associated with loss-of-function. Conclusion The clinical-radiographic spectrum produced by CANT1 mutations must be extended to include DD type 2 and Kim variant. While presence or absence of an additional metacarpal ossification centre has been used to distinguish subtypes of DD, this sign is not a distinctive criterion to predict the molecular basis in DD.

We present the clinical and radiological findings of seven patients with a seemingly new variant of Desbuquois dysplasia (DBQD) and emphasize the radiographic findings in the hand. All cases showed remarkably accelerated carpal bone ages in childhood, but none of the patients had an accessory ossification center distal to the second metacarpal, or thumb anomalies, instead, there was shortness of one or all metacarpals, with elongated appearance of phalanges, resulting in nearly equal length of the second to fifth fingers. The two sibs followed for 20 years showed narrowing and fusion of the intercarpal joints with age and ultimately, precocious degenerative arthritis. The changes in the feet were similar to those of the hands, with advanced tarsal bone ages, shortness of the metatarsals and elongation of the second and third toes. Other radiographic findings were narrowness of the intervertebral disc spaces resulting in precocious degenerative spondylosis and progressive scoliosis. The femoral neck was short and thick and showed a persistent enlargement of the lesser trochanter with a high-riding, bulbous greater trochanter that became more prominent with age. Molecular testing of the diastrophic dysplasia sulfate transporter (DTDST) gene was performed on six patients and no mutations were detected. This radiographic and clinical observation further adds to the evidence that there may be subtypes of DBQD. Long-term follow-up showed that severe precocious osteoarthritis of the hand and spine is a major manifestation of this specific variant.

Forelimb proportions have been used to infer locomotor adaptation in Australopithecus afarensis. However, little is known about proportions among individual forelimb segments in extant or fossil hominoids. The partial A. afarensis skeleton A.L. 438-1 and the more complete skeleton A.L. 288-1 provide the opportunity to assess relative length of the arm, forearm, wrist, and palm. We compare scaling relationships between pairs of forelimb bones of extant hominoids and A. afarensis, and length of individual forelimb elements to a body size surrogate. Hylobatids, and to a lesser extent orangutans, have the longest forelimb bones relative to size, although the carpus varies little among taxa, perhaps due to functional constraints of the wrist. Pan species are unique in having long metacarpals relative to ulnar length, demonstrating that they probably differ from the common chimp-human ancestor, and also that developmental mechanisms can be altered to results in differential growth of individual forelimb segments. A. afarensis has no forelimb bones that are significantly longer than those of humans for its size. It falls within the range of variation seen in modern humans for all comparisons relative to size, but appears to differ from the typical human brachial index due to a slightly shorter humerus and/or slightly longer ulna. It has short metacarpals like humans only among hominoids. Thus, while Pan may have elongated its metacarpus relative to ulnar length, A. afarensis may have reduced the length of its metacarpals and possibly its humerus relative to body size from the primitive condition. Am J Phys Anthropol 132:327-343, 2007. o 2006 Wiley-Liss, Inc.

Copyright © 2015, Zahedan University of Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited. A 19-year-old man referred to the emergency department with generalized extremity pain. He had past medical history of sickle cell anemia. On physical examination, body temperature was normal and short right fourth-metacarpal bone was observed, but there was no sign of genetic disorders like turner syndrome, McCune-Albright, and hypothyroidism. Laboratory tests including thyroid function, calcium, phosphorus, and alkaline phosphatase were normal. On radiologic study, right fourth-metacarpal bone was short (Figure 1 A). Peripheral blood smear showed sickle cell bodies (Figure 1 B). Short metacarpal bone has been reported in psuodohypoparathyroidism, turner syndrome, rheumatoid arthritis, and ankylosing spondylitis, but this deformity was observed in sickle cell anemia. Repeated painful vaso-occlusive crises are common in sickle cell anemia [1]. These crises lead to infarcts, necrosis and degenerative changes in marrow-containing bone and most commonly involve long bones, but it can affect any bone [2]. His symptoms resolved after 3 days treatment with hydration and analgesic.

We report two new patients with the Patterson-Lowry rhizomelic dysplasia characterized by very short humeri, coxa vara with proximal femoral epiphyseal involvement, short metacarpals, metatarsals and phalanges. The expression of clinical and radiological characteristics is significantly variable, but the unique proximal metaepiphyseal appearance of humeri makes the syndrome easily identifiable. All the reported patients are sporadic. The genetics of the syndrome remain unclear for the moment.

The term “congenital pseudoarthrosis” refers to the semblance of a false joint formation which is present from birth. The soft tissue at the pseudoarthrotic site is composed of a variable admixture of fibrous tissue, fibrocartilage, and hyaline cartilage with evidence of enchondral ossification. Spaces and clefts are lined by a synovial-like tissue [1]. Congenital pseudoarthrosis is mostly seen in the lower extremity, particularly involving the tibia, fibula and femur [2]. In upper extremities, it may also involve clavicle and one or both bones of the forearm [3, 4]. However, metacarpal bone involvement is exceedingly rare with only three previous case reports in current literature [5–7]. But, to the best of our knowledge, there have been two cases of bilateral congenital pseudarthrosis of index metacarpals reported in literature up to date [5, 6]. Congenital pseudoarthrosis is usually associated with genetic syndromes and presented as a component of several other abnormalities [2]. In 1950, Aegerter suggested a possible relationship between neurofibromatosis, congenital pseudarthrosis, and fibrous dysplasia [8]. In 1949, Moore stated that “the treatment of congenital pseudarthrosis will probably never be entirely effective until the etiology has been determined. Osteosynthesis by bone-grafting still offers the principal means of attacking the problem” [9]. The treatment of congenital pseudoarthrosis is challanging because achieving complete union of pseudoarthrosis site, providing an acceptable alignment and functional extremity is difficult and refracture rate is high. This is probably due to low osteogenic capacity of the affected whole segment. The principle of the treatment is complete resection of the pseudoarthrosis, grafting the bone defect and ensure bony union either with internal or external fixation. Currently Ilizarov external fixation has gained wide acceptance as a gold standard treatment for the management of congenital tibial pseudoarthrosis [2]. Herein, we intend to present a rare case of bilateral congenital pseudoarthrosis involving bilateral index metacarpal bones. This is not a unique case and previously two other cases has been published. But what makes our case different than previous cases is the treatment of choice. We have treated this patient with excision of the pseudoarthrosis, gradual distraction to overcome the short metacarpal length without neurovascular compromise, followed by tricortical grafting and internal fixation.

An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his hands and feet. The clinical examination revealed that his movements were clumsy and that he had disproportionally short limbs. In addition, he also had facial abnormalities of frontal bossing, hypertelorism, maxillary hypoplasia, broad low nasal bridge, short upturned nose with anteverted nostrils and triangular mouth. All extremities appeared short with stubby fingers and toes and with broad hands and wrinkling of the dorsal skin. Chromosomal analysis showed a normal (46, XY) karyotype. X-ray studies revealed broad, short metacarpals and phalanges with cone-shaped epiphyses and brachycdactyly and a diagnosis of peripheral dysostosis was confirmed by the characteristic radiographic appearance of the hands. Serum calcium and alkaline phosphatase levels were high, parathormone (PTH) was low, but 25 (OH) Vitamin D, albumin, and 24 hour urine calcium levels were in the normal range. Based on these findings, a diagnosis of acrodysostosis associated with hypercalcemia was made. To the best of our knowledge, this represents the first description of this syndrome.

We report on a boy with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Radiographs documented short and wide humeri, symmetrical brachymetacarpy, coronal clefts of the veretebrae, and punctate calcifications in the spine, sacrum, shoulder, feet, and trachea. Borochowitz [1991] described a similar patient with an apparently new syndrome of chondrodysplasia punctata (CP), distinct from previously described forms. He suggested the term “chondrodysplasia punctata, humero-metacarpal (HM)” type. We present our patient as a second case of this form of CP. © 1996 Wiley-Liss, Inc.

Patients with Sotos and Marfan syndrome have unusually long metacarpals and phalanges which may make the differential diagnosis difficult in younger children. Using Q-scores, we compared metacarpophalangeal pattern profile (MCPP) analysis in these two syndromes and identified distinct and different pattern profiles. This illustrates that the MCPPs are specific in these syndromes, even at an early age, and not related solely to the unusually long metacarpals and phalanges. For this study we used data from 50 Sotos patients (34 from the United Kingdom and 16 from the Netherlands, with a total of 95 hand films) and 36 Marfan patients (from the Netherlands, with 98 hand films). Of all patients over age 3 years the bone length (including the epiphysis) was determined. The patients under 7½ years (29 Sotos and 12 Marfan) were also measured without inclusion of the epiphysis. The patients measured without epiphysis had a relative short metacarpal 1 (MC1) and long distal phalanx 1 (DPh1) in Sotos syndrome, and a relative long MC1 and short DPh1 in Marfan syndrome. Between age 3 and 7½ years more than 90% of the films could be classified correctly using these two variables. Of the roentgenograms measured with epiphyses, about 80% were classified correctly. © 1994 Wiley-Liss, Inc.

Objective Brachydactyly (BD) is a general term for inappropriately short fingers and/or toes. The author previously reported that a short metacarpal bone had a protective effect on the metacarpophalangeal joint of the same finger in rheumatoid arthritis (RA). The objective was to investigate the prevalence of BD in patients with RA and its potential effect on the phenotype, especially erosive changes. Methods A total of 1524 Korean patients with RA were recruited. The presence of BD on hand radiographs, rheumatoid factor (RF), anti-cyclic citrullinated peptide antibody (anti-CCP), HLA-DRB1 shared epitopes (SE), risk haplotypes of peptidyl deiminase type IV (PADI4) and erosive joint stage, and smoking status, were determined. Results The prevalence of BD was 7.9% ( n = 120) in our RA cohort. The types of BD were type A3 (79.2%), type D (15.0%), Kirner deformity (14.2%), and type E (6.7%). RA patients with BD had reduced erosion on hand radiographs (OR = 0.57, 95% CI: 0.34–0.95, p = 0.029) adjusted for age, sex, disease duration, smoking, RF, anti-CCP, SE, and PADI4. Conclusion BD is more common in RA patients than might be expected. BD may have a protective effect on erosive changes in RA independent of previously well-established risk factors such as seropositivity, SE, PADI4, and smoking.

We present a patient with osteomyelitis variolosa in both elbow joints with short middle fingers—sequelae of smallpox. Both elbow joints showed sclerosis of bones around elbow joint, enlargement of olecranon process of ulna, and head of radius with intact joint space. Hands showed shortening of both middle fingers following dactylitis leading to short metacarpals. The purpose of this report is to remind those who seldom see one of the most important and easily recognized complications of smallpox.

Sisters came to our hospital complaining of short fingers and toes in 1984. The elder was 8 years old and the younger was 7 years old. They exhibited short metacarpal and metatarsal bones due to early epiphyseal closure on physical examination, and normal serum calcium, phosphorus and parathyroid hormone on laboratory findings, we diagnosed pseudopseudohypoparathyroidism. But they developed hypocalcemia and hyperphosphatemia with the growth spurt. Ellsworth-Howard test recently performed using human PTH showed positive urinary cyclic AMP response and negative phosphauric response, so we diagnosed them pseudohypoparathyroidism Type II by Drezner's classification.We thought their serum calcium level had been barely within normal range with the normal level of circulating 1, 25-dihydroxyvitamin D because of a mild form of pseudohypoparathyroidism, but increased calcium requirement with the growth spurt caused hypocalcemia and hyperphosphatemia.

Purpose. To determine factors that affect healing index and consolidation time following lengthening of congenitally short metacarpals (brachymetacarpia). Methods. 18 metacarpals of 8 young women (mean age, 18.6 years) were lengthened using the callus distraction technique. The results, including healing index and consolidation time, were analysed and compared with those in the literature. Results. The mean length increase was 16.5 mm (55% of the original length of 30 mm). Age was positively correlated with healing index and consolidation time: younger patients healed faster than older patients. Healing index differed significantly between patients aged 0 to 18 years and those aged 19 to 30 years (p=0.002). Comparison of our results with 9 previous studies confirmed that increased age was associated with a greater healing index and consolidation time. Conversely, the faster the distraction rate, the less the healing index and consolidation time. Conclusion. Age has the most effect on healing index and consolidation time. Metacarpal lengthening using callus distraction is recommended. Adolescence is the most appropriate time to perform distraction lengthening of a congenitally short metacarpal. This will avoid additional lengthening of normal metacarpals prior to epiphyseal closure.

Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. Only a very small number of children with this condition have been reported so far. Here we report on a series of 22 patients including 10 boys and 12 girls with acromicric dysplasia. Length was normal at birth and height fell progressively off the centiles postnatally. The mean adult height was 130 cm (133 cm in males, 129 cm in females). The hands, feet, and limbs were short and OFC was normal. Intelligence was normal and mild dysmorphic features were noted. Other occasional features included well developed muscles, a hoarse voice, generalised joint limitation in some patients, frequent ear, tracheal, and respiratory complication, and spine abnormalities. Long term follow up showed that facial dysmorphism was less obvious in adults and that carpal tunnel syndrome was frequent in older patients. Apart from short metacarpals and phalanges, internal notch of the second metacarpal, external notch of the fifth metacarpal, and internal notch of the femoral heads, there were no major x ray abnormalities. No major complications, such as cardiac disease or major orthopaedic problems, occurred in the course of the disease. The condition appeared to be sporadic in 16 cases but the observation of vertical transmission in three families was consistent with an autosomal dominant mode of inheritance. Keywords: acromicric dysplasia; geleophysic dysplasia; long term outcome; autosomal dominant inheritance

We report on a girl with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Presumably she has normal height, but short nose, short hands, and normal mentation; and on roentgenograms short and wide humeri, symmetrical brachymetacarpy, especially of the 4th metacarpals, and hypoplastic distal phalanges, sagittal clefting of vertebral bodies, and punctate calcifications at various areas including the entire spine, sacrum, hands, feet, trachea, and thyroid cartilage. It is an apparently new syndrome of chondrodysplasia punctata (CP), quite distinct from the classic form (Conradi-Hünermann type), as well as the other well-defined forms of CP. We thus suggest the term chondrodysplasia punctata, humero-metacarpal (HM) type.

Introduction The anatomical variations of bones in the hand are common. The existence of exostosis and shortening of metacarpal bones has been described in the literature as part of the hereditary multiple exostosis syndrome but no case has been reported with the co-existence of sesamoid ossicles in the same patient. Case presentation We report a case with co-existence of distal ulnar and radial exostoses, 4th and 5th short metacarpals and sesamoid ossicles in the wrist area. Conclusion This variation may help the interpretation of pain or sensory disorders in the hand and wrist areas.

Two cases of Larsen's syndrome, that we have recently experienced, were reported.Case I, a male, aged 10 years, was born via an uncomplicated delivery.Case II, a female, aged 6 years.They had prominent forehead and wide spaced eye.They had bilateral hip, knee and elbow dislocations. In addition, they had foot deformity.Radiographic studies showed abnormalities.They had extra calcaneal ossification, short metacarpals, supernumerary carpal bones and anormalous segmentation of vertebrae.

In 4 girls and 1 boy with pseudo-hypoparathyroidism growth and physical maturation were followed longitudinally for 7 – 13 years until adult height had been reached. As a result of early puberty and cessation of growth all patients were relatively shorter as adults than in their childhood years. The difference between average height at the age of 8.0 years and average adult height was 2.25 sd. This observation offers an explanation for the finding in the literature that short stature is more common in adults with this disease than in children. Skeletal age was advanced in all cases and the development of the tubular bones of the hand was more advanced than the development of the round bones. It is possible that this difference resulted from inappropriately early closure of the epiphyseal discs of disproportionally short metacarpals and phalanges. On the other hand it may be an aspecific phenomenon of advanced skeletal maturation.

The muscles moving, directly or indirectly, the anterior extremity, the action of the muscles, and the skeletal elements on which these muscles attach are described in Rousettus aegyptiacus (E. Geoffrey) (Pteropodidae). On the whole the morphological pattern and action of the muscles are the same as in microchiropteran bats, though there are some differences. The description, high-speed films, and flash photographs are made the basis of functional aspects. 1. Rousettus aegyptiacus has a very low midventral sternal ridge. The sternum also has three keels, on which a median ligamentous sheet attaches. This ligament and the keels form an enlarged area of attachment for the pectoralis muscle without any appreciable increase in weight. 2. The cross sections of the digits are described. The digits are shaped in such a way as to have their largest diameters in those planes where the bending forces are largest, thereby keeping low the weight while still possessing rigidity in the important directions. However, this flattening of the digits in certain planes is less pronounced in Rousettus aegyptiacus than in many micro chiropteran species. 3. The metacarpals are short in relation to the entire digits, as compared with many microchiropteran species. This permits the bat to get a potentially high camber of the wing during the downstroke. During the later part of the upstroke the digits are highly flexed, folding the hand wing, to reduce the drag. A relatively short metacarpal contributes to giving a small area of the hand wing meeting the airstream during the upstroke. 4. The rigid unit formed by the second and third digits is very broad in megachiropteran bats. Musculus palmaris longus is very powerful in Rousettus aegyptiacus in comparison with most microchiropteran bats so far investigated. These features contribute to giving high camber of the wing. 5. Rousettus aegyptiacus has a powerful flexor muscle of the radius, Musculus brachio-radialis, which is unusual in microchiropteran bats. 6. Megachiropteran bats, so far investigated, possess more powerful membrane muscles than do the small microchiropteran bats.

In 1952, Albright for the first time found Pseudo-Pseudohypoparathyroidism (P. P. H.), as a syndrome of anatomic anomalies similar to Pseudohypoparathyroidism (namely, short stature, round face, short metacarpal or metatarsal bone and ectopic ossification), with normal serum concentration of calcium and phosphate. Since 1952, many cases were reported all over the world. But we have never seen the report in Japan. Recently, we have experienced a young girl (10 years) who had characteristics for P.P. H. with suggestive, familial occurrence. This case is presented and the nomenclature of related clinical entities was discussed together with the statistics of P. P. H. in literature.

Familial brachydactyly, as illustrated in a previous paper (Brailsford, 1945), may be exhibited in the members of a family unassociated with any other deformity. The same can be said of bilateral coxitis. In the family to be described and illustrated, these two conditions were associated with one another. The skeletal defects in brachydactyly may consist of one or more short metacarpals, metatarsals, or phalanges. The distribution may be:— (a) Regular, i.e., all the terminal phalangeal diaphyses, the middle phalanges or the metatarsals may be stunted in growth, the terminal or middle phalanges may be missing or fused, or (b) Irregular, with isolated defective phalanges, metacarpals or metatarsals. In the family previously illustrated it was shown that, though all members may inherit stunted development of some of these bones, they did not exhibit an exact copy of the parent, i.e., there was variation in the defects. This characteristic has been commented upon by other observers and is again shown in the p...

We report a large Brazilian kindred with 28 cases of the autosomal dominant multiple synostosis syndrome. The main anomalies were symphalangism and carpal and tarsal synostoses. Other common findings included synostosis involving other bones, absence of phalanges and nails, short metacarpals, pes planovalgus with prominent lateral border, hypoplastic alae of nose, short upper lip, and dermatoglyphic abnormalities. This may be a variant of the WL syndrome.

We report a sporadic adult female with a distinctive variety of spondyloepiphyseal dysplasia tarda characterised by universal platyspondyly, short metacarpals, short metatarsals, genu valgum, mild thoracic kyphoscoliosis, and severe generalised epiphyseal distortion with premature osteoarthrosis.

A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-1 can be characterised by a proportionate reduction of the middle phalanges. Type B is thought to be an amputation-like defect. In type C the fourth middle phalanx is usually the longest, and type E (Riccardi and Holmes, 1974) is characterised by short metacarpals and short distal phalanges. Short stature is usually present in type A-1 and type E brachydactyly (Riccardi and Holmes, 1974) and it may be present in some individuals with brachydactyly C. As short children have short hands, it is possible that in patients with very mild expressions of brachydactyly the cause of the short stature may be overlooked. It is suggested that in every child with proportionate short stature the hands should be carefully examined. If the hands are disproportionately short, if any distal creases are missing, if there is a shortening, however mild, of any finger, if any metacarpals are short, then it is important to have ϰ-rays to look for brachydactyly A-1, C, or E. Much information is still needed. It is important in future reports to have skeletal surveys, pattern profile analyses, and to note the height of children with brachydactyly C. Most interesting of all will be when fetal limbs of each type become available for study.

The occurrence of short metacarpal or metatarsal bones is described in 1 patient who fulfilled the original description of pseudo-pseudohypoparathyroidism but without peripheral calcifications, in 1 patient with Turner's syndrome and in 6 persons of normal height distributed in two families. In none of these cases were signs of tetany observed. The frequency of short metacarpal bones in a general population consisting of 764 persons was found to be nil.

Observations on 2594 outpatients indicate that shortness of the fourth metacarpals relative to the third and especially relative to the fifth (metacarpal sign) is of frequent occurrence in patients with gonadal dysgenesis having either female or male sex chromatin. Moreover, in males (Klinefelter's syndrome excluded), this metacarpal sign occurs much more frequently in the presence of some gonadal anomaly than when the gonads are normal. Among 105 males exhibiting the metacarpal sign and 136 others exhibiting only the borderline condition, all of those from whom buccal smears were taken were found to have male sex chromatin. In all 5 males with female sex chromatin, there was no metacarpal sign. On the basis of limited data, it appears that the metacarpal sign, when found in more than one generation of the same family, is without significance as far as gonadal development in any generation is concerned. However, when it is found in only one generation, it is frequently associated with gonadal abe...

What is true? What is false? What is "pseudo"? The first two questions may be difficult to answer in an individual case, but in general they are understandable. The third calls for a reflective pause. On the face of it, "pseudo" is synonymous with false. When prefixing the name of a disease, however, it can give rise to two discordant meanings. In 1942 Albright and his associates described a genetic disease that closely resembled hypoparathyroidism but differed from the latter in its additional clinical features—dwarfism, round head, and short metacarpal and metatarsal bones—and in its pathophysiology. The basic defect responsible for the disordered calcium and phosphorus metabolism was not a quantitative or qualitative deficiency of the parathyroid hormone but the unresponsiveness of renal tubules to its action. Albright et al named the disease pseudohypoparathyroidism. And, when these investigators soon discovered a disease that mimicked pseudohypoparathyroidism in its physical features but

Excerpt In 1942 Albright, Burnett, Smith, and Parson1originated the term pseudohypoparathyroidism (PH) to describe a group of patients with round face, short stature, short metacarpals and metatars...

THE obvious nature of brachydactyly accounts for its interesting contribution to the history of medical genetics. It was the first anomaly in man reported to show dominant mendelian inheritance.1,2One of the few cases of an apparently homozygous autosomal dominant anomaly was reported in a family with mild brachydactyly in which intermarriage produced a child without fingers or toes who died at the age of one year.3Symphalangism (congenital fusion of the phalanges) is occasionally associated with brachydactyly. It, too, contributes to the history of human genetics. A family with symphalangism traced back 14 generations to the Earl of Shrewsbury (1453) of Shakespeare'sHenry VIrepresents one of the longest vertical histories of a human anomaly.4 Brachydactyly may be due to one of three anomalies: Brachyphalangy (short phalanges), Hypophalangy (absence of phalanges), or Brachymetacarpy (short metacarpals). It is transmitted as an autosomal dominant anomaly. The following is a report of a family