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Background: The 17q22 contiguous microdeletion syndrome is a recently described chromosomal disorder. Clinical features are heterogeneous because of variable deletion sizes. Clinical report: We present a child with delayed psychomotor development, dysmorphic features (prominent posterior rotated ears, upturned nose, thin upper lip, smooth philtrum, high palate), vesicoureteral reflux and growth hormone deficiency. 1.53 Mb loss at the 17q22 chromosome region in the proband was the responsible for the phenotype. Conclusion: In the few cases of interstitial 17q22 deletion in the literature, this is the first with growth hormone deficiency. This may contribute to the phenotypic spectrum of 17q22 microdeletion syndrome. As the reported cases increase, we believe that genotype-phenotype correlation will be better illuminated.

Summary Aim The aim of this study was to evaluate the angular photogrammetric characteristics of subjects according to the facial esthetics criteria applicable in Cote d’Ivoire. Material and methods This was a horizontal study, concerning of group of young people from Cote d’Ivoire whose attractiveness and photogrammetric characteristics were assessed. The data obtained were analyzed using SPSS 20.0 statistical software. The limit of statistical significance was P 0.05. Subjects were characterized by PCA. Results Attractive subjects had a large mid-face section with an upturned nose ( P 0.01 ). Attractive women had facial profiles that were more convex than men who were judged handsome. Conclusion Despite the subjectivity of the notion of beauty, certain angles of the facial profile contribute to the esthetic balance of black Ivorian faces.

Weissenbacher-Zweymuller syndrome is a very rare syndrome that comprises the association of PierreRobin sequence with rhizomelia and characteristic x-ray findings. We report the first case diagnosed in a Jordanian newborn. This male newborn presented with cleft palate, micrognathia, glossoptosis, depressed nasal bridge, upturned nose, low set ears and rhizomelia. Radiographically, there was dumbbell appearance of the long bones of the limbs and coronal clefts of the vertebrae.

Acrodysostosis is characterized by distinctive facial features and severe brachydactyly. Mutations in PRKAR1A or PDE4D are known to be responsible for this disease. Cases of hormonal resistance have been reported, particularly in patients with PRKAR1A mutations. The physical characteristics and endocrine function of pseudohypoparathyroidism type Ia is known to resemble acrodysostosis. We report the case of a 4-yr-old patient with a PRKAR1A mutation. He had characteristic facies with an upturned nose and cone-shaped epiphyses of most phalanges. These findings have not been reported as extensive for cases of pseudohypoparathyroidism type Ia. He also had TSH resistance from birth. We performed endocrinological stimulation tests to further evaluate his endocrine status. These examinations revealed resistance to TSH and PTH, but there was normal secretion of ACTH, GH, and cortisol. An Ellsworth-Howard test resulted in normal urinary cAMP excretion. This response differs from that of pseudohypoparathyroidism type Ia. In summary, the constellation of an upturned nose, cone-shaped epiphyses of most if not all phalanges, and PTH resistance with a normal urinary cAMP response may satisfactorily enable clinical diagnosis of acrodysostosis.

3-M syndrome is a rare autosomal recessive disorder characterised by short stature, dysmorphic facial features and skeletal abnormalities. Individuals with 3-M syndrome have a recognisable pattern of features including a triangular face with pointed chin, large ears, full eyebrows, an upturned nose with a fleshy tip, a long philtrum, and a prominent mouth with full lips.1 In the spine, especially in the lumbar region, the vertebral bodies are tall and reduced in their anteroposterior and transverse diameters. The skeletal findings become more apparent with increasing age.2 Mutations in the CUL7, OBSL1 and CCDC8 genes have been associated with the condition. CUL7 is involved in chondrocyte growth and proliferation, and it is proposed that in 3-M syndrome, reduced cell mitosis during the early gestation period could be the cause of retarded growth. In particular, these mutations disrupt the ability of the protein cullin-7 to facilitate assemblage …

Drinking low levels of alcohol when pregnant seems to subtly affect how a baby's face develops, including the shape of the eyes, nose and lips. Heavy drinking during pregnancy can cause fetal alcohol syndrome, characterized by facial features such as small eye openings, a short, upturned nose and a smooth philtrum over the upper lip. Children with this condition are likely to have attention and behavioral disorders and a lower IQ, says Jane Halliday of the Murdoch Children's Research institute In Victoria, Australia. To see if low levels of alcohol consumption can also affect fetuses, Halliday's team studied l570 women throughout their pregnancies. Of these, 27 percent said they continued to drink at least some alcohol.

Cornelia de Lange Syndrome (CdLS) is a multisystem disorder with a live birth prevalence of approximately one per 15 000. Clinical diagnosis is based on a characteristic facies – low frontal hair line, short nose, triangular nasal tip, crescent shaped mouth, upturned nose, and arched eyebrows – characteristic limb defects and a distinctive pattern of growth and development. Approximately half of all classical cases of CdLS have heterozygous loss of-function mutations in the gene encoding NIPBL, a component of the cohesion-loading apparatus (Dorsett and Krantz, 2009). Herein we describe a patient with a rare intragenic deletion of NIPBL who has typical microcephaly and developmental problems but atypical growth pattern and facial features.

The coordinate transformation approach outlined by D'Arcy Thompson for analysing biological shape was extended using modern computerised image processing techniques so that it could be applied to photographs for the study of patients with syndromes of altered facial morphogenesis. Photographs digitised at a resolution of 512 by 480 pixels were subjected to 'rubbersheeting' transformations using a fast microcomputer. Starting with a photograph of a normal child, a single application of the rubbersheeting algorithm produced features such as an upturned nose quite simply. Other facial anomalies may also be recreated with multiple applications. Preliminary results suggest that this technique may be a useful tool in attempts to understand and analyse the changes in facial configuration in a variety of syndromes with facial anomalies.

The spondyloepimetaphyseal dysplasias (SEMD) are a large, genetically heterogeneous group of disorders of variable severity, which are classified according to their clinical and radiological features. SEMD with multiple dislocations (Hall type) has been recently delineated (MIM 603546). This condition is characterized by striking epiphyseal and metaphyseal changes in the long bones, joint laxity, multiple dislocations of the large joints including the knees, and dysmorphic features including a short and upturned nose with a depressed nasal bridge and midface hypoplasia. An autosomal dominant mode of inheritance has been suggested. We report a further patient with a mild form of this condition and persistent inspiratory stridor secondary to laryngeal stenosis. This complication has been reported in previous reports and is certainly an important diagnostic feature.

Orthodontists have it all wrong when they go on about beauty and brag about the esthetic enhancements their treatments achieve. As they apply to orthodontics, these terms are out of place and the Social Security reimbursement department turns a deaf ear to such language. Orthodontic treatment does not make people beautiful, it just makes them normal. Even if your treatment is successful, your patient will still have his cauliflower ears, his upturned nose, his dull eyes, his pimply skin, his long or moon-shaped face. And, even with the mouth, how much can we do about the shape of the lips, of the teeth and about the movement of the facial muscles that creates a dour look or a sad smile? Orthodontics does not make people beautiful. It eliminates an ugly facial feature. Afterwards, the patient looks like everyone else again, in other words normal, with some minor defects. And not necessarily beautiful. Appearing normal is a necessary condition for being beautiful. But there’s more to it. We can’t be beautiful if we’re not normal, but we can be normal without being beautiful. In fact, this is the case most of the time. Beauty is a whole other story.

We report on a 4-year-old girl with distinctive facial features (redundant skin, bushy eyebrows, narrow palpebral fissures, short, upturned nose, epicanthal folds, and a long upper lip with well-defined philtrum) who has an interstitial deletion of chromosome 14 including band 14q31, designated as 46,XX,del(14)(pter-->q24.3::q32.1-->qter). Comparison with previously reported patients with deletions of 14q involving band 14q31 suggests that there is a distinctive clinical phenotype associated with this deletion. Our patient had dental abnormalities (3 maxillary and 3 mandibular incisors) not described in the other patients.

Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea.

I N 1 9 3 3 , de Lange ~ in Amsterdam described two patients with a complex syndrome associated with characteristic facies and cluster of various congenital anomalies. The primary characteristics include an upturned nose, downturned mouth, confluent eyebrows, long lashes, microbrachycephaly, hirsutism, hypoplastic nipples and umbilicus, low pitched cry, severe retardation of growth and development, and a variety of minor and major skeletal deformities. Subsequently other cases were reported from Europe, and the first cases were reported in the United

Although there is considerable variation in individual craniofacial features, the overall pattern of these features is often distinctive enough to provide a basis for a diagnosis of fetal alcohol syndrome. Clarren and Smith1 regard short palpebral fissures, hypoplastic upper lip with thinned vermilion, and diminished to absent philtrum as key facial features. Majewski2 also considers the philtrum and upper lip as key features but minimizes the importance of palpebral fissures. Instead, he emphasizes the short, upturned nose. Other facial features are listed in Table 13. Some of these facial features are evident in Figures 11a–11e.

Two unrelated male infants are described with a syndrome characterized by unusual facial features, relative failure to thrive, and the most marked early acceleration of osseous maturation of any condition described to date. The facial abnormalities include coarse eyebrows, shallow orbits, and an underdeveloped upturned nose. An additional feature of this syndrome is significant motor and mental retardation.

recurrent pulmonary infections. The facial features included coarse eyebrows, upturned nose, and micrognathia. At first, we assumed that the child had the MarshallSmith syndrome, but the patient had no phalangeal abnormalities at 19 months. In addition to these features, the patient had mild camptodactyly, limited motion of the knees, and wide distal ends of the long bones. The facial features also included a large bifrontal diameter, fiat occiput, ocular hypertelorism, and a small fish-like mouth, features found in the Weaver-Smith syndrome. Furthermore, the patient had behavioral characteristics similar to those of patients reported by Weaver and his associates, z The child was shy toward strangers, and tilted her head downward in viewing her environment. The serum amino acid studies showed a moderate decrease in the levels of glycine, alanine, and lysine. She did not have excessive postnatal growth. Since this patient has features thought to discriminate between the Marshall-Smith syndrome and the Weaver-Smith syndrome, we assume that these syndrome are morphologic variants of a single entity.

A considerable number of procedures have been described for secondary improvements of the lip. They involve the scars, the Cupid's bow, the philtrum, the alar base, the vestibulum and the columella. In fact, these procedures may give a good aesthetic result in a static position, but the truly successful results occur with normal movements. A normal motion of the lip is impossible without a proper dissection and reorientation of the muscles. Satisfactory lip motion cannot be realized with a defective alveolus or piriform aperture that retracts the alar base. Consequently, a good lip or nasal base cannot be achieved without bony restoration of the alveolus and piriform aperture. A transversely short lip never has normal mobility, and it must be widened by an Abbe flap. A tight, retruded lip on a retruded maxilla cannot be improved by a prosthetic vestibular plate because a greater tension will restrict movements. The lip must be advanced with the maxilla, then widened if necessary by an Abbe flap. A thick prolapsed lip never has normal movement; it must be raised by an infranasal excision. A cleft lip has nothing to gain from being displayed under a short nose, or, still worse, under a upturned nose. The nose must be kept long enough to cast a shadow on the lip. For the same reason, a bone graft is often necessary in bilateral clefts because the nose is short and retruded.

A short time ago, I 1 described in this journal a new method for the introduction of fluids into the nasal accessory sinuses, which I termed "displacement irrigation." It consists, briefly, in inverting the head; introducing fluid into the upturned nose, and causing it to enter the sinuses by exhausting air from them and allowing the fluid to replace it. Various solutions have been employed for their cleansing and therapeutic effects, and iodized oils have been introduced for roentgen-ray examination. The apparatus that was used in the beginning consisted of a 5 cc. glass plunger syringe for introducing the fluid, and an electric suction pump to produce the vaccuum. This arrangement proved somewhat cumbersome, especially in the roentgen-ray laboratory, and necessitated a trip to the roentgenologist with the patient in order to introduce the oil at the proper moment. Displacement syringe In order to simplify the procedure