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Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant development disorder due to mutations in the OFD1 gene. It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%-30% of patients) and characterized by evanescent milia and patchy alopecia. Trichoscopic findings (broken hairs, black dots, pili torti) can resemble tinea capitis, although such findings have not been well characterized. High clinical suspicion of ectodermal dysplasia-like syndromes due to trichoscopy findings, absence of response to long-term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis., (© 2024 Wiley Periodicals LLC.)

Introduction: KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities., Patient Concerns: Patients 1 and 2 were two Roma Gypsy siblings presenting thoracic dysplasia and a combination of oral cavity anomalies., Diagnosis: A custom NGS gene panel, including genes associated to skeletal ciliopathies, identified the homozygous KIAA0586 splicing variant c.1815G>A (p.Gln605Gln) in both siblings, confirming the clinical diagnosis of short-rib-polydactyly., Intervention: Patients were transferred to neonatal intensive care unit and received life-support treatment., Outcomes: Patients 1 and 2 died after few hours and 1 month of birth, respectively, because of respiratory failure related with the disease., Conclusion: We report two patients affected by short-rib polydactyly syndrome and overlapping phenotype with oral-facial-digital syndrome associated with the c.1815G>A variant in KIAA0586, suggesting a quite peculiar genotype-phenotype correlation.

Papillon-Léage-Psaume Syndrome, also known as oral-facial-digital syndrome (OFDS) type I, describes a group of neurodevelopmental disorders that are characterized by anomalies of the oral cavity, facial features, and the digits. Central nervous system (CNS) anomalies and visceral organ abnormalities such as kidney, pancreas, and ovarian cysts can also be seen in these patients. Among 13 potential types, female-inherited OFDS type I is the most common and it has been reported to be lethal in males. After the identification of the genetic relation of OFDS in 2001, it is now known that, except X-linked OFDS Type I and VIII, generally all types of OFDSs are autosomal recessive. The dentist's knowledge about the syndrome can reduce the development of physical and dental anomalies by facilitating early diagnosis. This article presents a patient with Papillon-Léage-Psaume Syndrome (Oral-Facial-Digital Syndrome Type I)., Competing Interests: None

The oral-facial-digital syndrome belongs to a group of hereditary diseases, manifested by multiple birth defects (usually, the face and fingers). At the current stage, there are 14 genetic variations of the oral-facial-digital syndrome. The presence of various abnormalities of the oral cavity, face and fingers is common for all of them, but each syndrome has a specific phenotype or type of inheritance. The etiology of this syndrome is unknown. It is inherited in an X-linked dominant pattern. Aim of the study: to describe and analyze the clinical case of oral-facial-digital syndrome. Data of the patient (Kira M., 11 months old): clinical-anamnestic examination, chest radiography, ultrasound investigation, molecular-genetic testing OFD1. Results Numerous miliae are detected on the face and ears of the child. Facial dysmorphy (large wide eyes, epicantus, wide nose bridge, telecantus, small mouth, small beak shaped nose, hypoplasia of the wings of the nose, small chin). The large fontanel is closed. Focal alopecia and dry hair are noted. Syndactyly of 2nd-3rd toes, asymmetrical shortening of the index finger of the right hand. Oral cavity examination reveals cleft palate, ankyloglossy and tongue lobulation. Transcranial ultrasonography: M echodex = 50.0 mm. M echosin = 52.0 mm. VIII = 6.9 mm (N up to 3.0 mm). V latdex = 24.4 mm, V latsin = 25.0 mm (N up to 16.0 mm). Neurologist's consultation: "Congenital brain malformation: agenesis of corpus callosum, congenital cerebral cysts." Ultrasound examination of the abdominal organs detected liver enlargement (anteroposterior size of the right lobe: 78 mm (N up to 65 mm), left lobe: 0.38 mm (+1.5 cm) Conclusion Oral-facial-digital syndrome type I is an inherited pathology, which in most cases is diagnosed immediately after birth on the basis of oral, facial and digital anomalies. Molecular genetic study makes it possible to confirm this disease and provide counseling to family members. Elimination of some developmental defects (hard palate plastic, correction of frenulum hyperthrophy), as well as a properly selected complex of therapeutic and rehabilitation measures greatly improves the quality of life of the patient and contributes to a favorable forecast.

We report the successful treatment of multiple facial milia with manual extraction and tretinoin in a child with orofaciodigital syndrome type 1. Treatment with topical medications may be insufficient in individuals with orofaciodigital syndrome type 1, and pitted scarring is often a sequala. This case demonstrates that manual extraction is well tolerated and effective in the treatment of multiple milia. In addition, clinicians need to be aware of this rare genetic condition, which commonly presents de novo and can lead to significant morbidity if untreated., (© 2017 Wiley Periodicals, Inc.)

Numerical anomalies, either addition or deletion, are quite a common findings in human dentition. However, it is extremely rare to find both hypodontia and hyperdontia simultaneously in the same individual. This condition is referred as concomitant hypohyperdontia (CHH). Aetiology of this condition is still obscure. The prevalence of CHH has been reported to be between 0.002% and 3.1%. This case report highlights a rare occurrence of bimaxillary CHH represented by the absence of both mandibular central incisors and presence of two supernumerary teeth in the maxillary anterior segment. The rarity of such condition of mixed hypodontia as well as hyperdontia in single human dentition prompted the author to report the case., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is presumed to be lethal in males, mostly in the first or second trimester of pregnancy. Live born males with OFD1 are a rare occurrence, with only five reported patients to date. In four patients the presence of a congenital heart defect (CHD) was observed. Here, we report an affected male fetus with a hemizygous de novo mutation in OFD1 (c.2101C>T; p.(Gln701*)). Ultrasound examination demonstrated severe hydrocephalus, a hypoplastic cerebellum and a hypoplastic left ventricle of the heart. The pregnancy was terminated at 16 weeks of gestation because of poor prognosis. Post-mortem examination of the fetus confirmed severe hypoplasia of the left ventricle of the heart. We emphasize that CHDs should be included in the phenotypic spectrum of OFD1 in males. This justifies molecular analysis of OFD1 when CHD is encountered prenatally in combination with one or more phenotypic features previously described in the OFD1 gene alteration spectrum. The underlying pathogenesis of CHD in OFD1 (and other ciliopathies) probably involves dysfunction of the primary cilia regarding coordination of left-right signalling during early heart development. Whether these CHDs wholly or partly result from defective left right signalling, in which different types of cilia are known to play a critical role, remains a topic of research., (© 2017 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.)

Introduction: Surgically induced necrotizing scleritis (SINS) is a rare but serious disorder that can develop many years after strabismus surgery. It is generally treated with high-dose steroids or immunosuppression., Case Report: We describe a patient with Varadi Papp syndrome and congenital fibrosis of the extraocular muscles, who developed surgically induced necrotizing scleritis a month after strabismus surgery and was successfully managed by oral vitamin C and topical N-acetylcysteine 10%., Discussion: While SINS is conventionally treated with steroids/immunosuppression, a conservative approach may be tried in milder cases. The role of topical N-acetylcysteine in managing this complication needs to be explored.

In this study, we aimed to evaluate the incidence, risk factors, causes and clinical management of intracranial haemorrhage (ICH) diagnosed during foetal life or in the first month of life in term neonates with a discussion of the role of haematological risk factors. This study included term neonates (gestational age 37-42 weeks) with ICH diagnosed, treated and followed up in the Neonatal Intensive Care Unit of Hacettepe University, Ankara, Turkey, between January 1994 and January 2014. Medical follow-up was obtained retrospectively from hospital files and prospectively from telephonic interviews and/or clinical visits. During the study period, 16 term neonates were identified as having ICH in our hospital. In six (37.5%) neonates, ICH was diagnosed during foetal life by obstetric ultrasonography, and in 10 (62.5%) neonates, it has been diagnosed after birth. Haemorrhage types included intraventricular haemorrhage (IVH) in eight (50.0%), intraparenchymal haemorrhage in six (37.5%), subarachnoid haemorrhage in one (6.2%) and subdural haemorrhage in one (6.2%) neonate. IVH was the most common (n = 5/6, 83.3%) haemorrhage type among neonates diagnosed during foetal life. Overall, haemorrhage severity was determined as mild in three (18.7%) neonates, moderate in three (18.75%) neonates and severe in 10 (62.5%) neonates. During follow-up, one infant was diagnosed as afibrinogenemia, one diagnosed as infantile spasm, one cystic fibrosis, one orofaciodigital syndrome and the other diagnosed as Friedrich ataxia. Detailed haematological investigation and search for other underlying diseases are very important to identify the reason of ICH in term neonates. Furthermore, early diagnosis, close monitoring and prompt surgical interventions are significant factors to reduce disabilities.

Introduction: Varadi-Papp syndrome (VPS) or oral-facial-digital syndrome type VI (OFDS-VI) is a rare autosomal recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. It can be associated with central nervous system tumors, which most commonly has been a hypothalamic hamartoma., Clinical Case Report: The boy had unusual facial features, developmental delay, limb malformations, and other phenotypic anomalies suggestive of VPS. X-ray of the hand and feet showed right hand polydactyly. He also had a deep wider peduncular fossa, thickened superior cerebellar peduncle, and inferior vermian hypoplasia along with optochiasmatic tumor. The patient underwent a right pterional craniotomy and tumor decompression. Histopathology was suggestive of a pilocytic astrocytoma., Conclusion: This is the first case in available literature in which the OFDS-VI has been associated with an optochiasmatic pilocytic astrocytoma. We suggest an expansion of the disease spectrum of OFDS-VI to include the association of optochiasmatic pilocytic astrocytoma.

Orofacial digital syndrome type 1 is condition which is characterized with, in addition to oral-facial and digital congenital anomalies, polycystic renal disease in most patient, and the prognosis is dependent on renal involvement in such patients. Our case was a 22-year-old patient who was presented with clinical picture of chronic renal failure, was started on hemodialysis and had took our attention due to oral, facial and digital anomalies in addition to polycystic renal disease.

Oral-Facial-Digital syndrome or Mohr syndrome is a rare congenital disorder characterized by malformations of face, oral cavity, laryngeal structures, trachea, and digits, muscular-skeletal abnormalities, and congenital cardiac defects. In this case report, we describe the anesthetic management of a parturient with Oral-Facial-Digital syndrome type II and repaired tetralogy of Fallot with left ventricular dysfunction., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Dental anomalies are common congenital malformations that can occur either as isolated findings or as part of a syndrome. This review focuses on genetic causes of abnormal tooth development and the implications of these abnormalities for clinical care. As an introduction, we describe general insights into the genetics of tooth development obtained from mouse and zebrafish models. This is followed by a discussion of isolated as well as syndromic tooth agenesis, including Van der Woude syndrome (VWS), ectodermal dysplasias (EDs), oral-facial-digital (OFD) syndrome type I, Rieger syndrome, holoprosencephaly, and tooth anomalies associated with cleft lip and palate. Next, we review delayed formation and eruption of teeth, as well as abnormalities in tooth size, shape, and form. Finally, isolated and syndromic causes of supernumerary teeth are considered, including cleidocranial dysplasia and Gardner syndrome., (© 2013 Wiley Periodicals, Inc.)

We report a 1-year-old girl with oral-facial-digital syndrome type 1 with multiple malformations of the oral cavity, face, digits, and central nervous system, including agenesis of the corpus callosum, the presence of intracerebral cysts, and agenesis of the cerebellar vermis, which is associated with the subarachnoid space separating the medial sides of the cerebellar hemispheres. This child also had a hypothalamic hamartoma and a Dandy-Walker malformation, which have not been reported previously. The clinical features, including cerebral malformations, in several types of oral-facial-digital syndrome, overlap with each other. Further accumulation of new case reports and identification of new genetic mutations in oral-facial-digital syndrome may provide novel and important insights into the genetic mechanisms of this syndrome., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Oral-facial-digital syndrome is characterized by heterogeneous clinical features involving malformations of the face, oral cavity, and digits. The syndrome has been reported only in women, suggesting that it is lethal in males. Affected females have malformations of the oral cavity (cleft palate, lip and tongue, abnormal dentition, and hamartomas), face (hypertelorism and milia), and digits (syndactyly, brachydactyly, and polydactyly). In this article, we report the orthodontic treatment of a 21-year-old woman with oral-facial-digital syndrome., (Copyright © 2012 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.)

Oral-facial-digital (OFD) syndrome is the collective name of a group of rare inherited syndromes characterized by malformations of the face, oral cavity, hands and feet. OFD syndrome type I, also known as the Papillon-League-Psaume syndrome warrants our attention because early diagnosis from an odontologic viewpoint will minimize the sequalae of developing physical and dental abnormalities. The present article highlights the clinical as well as the radiographic findings and the treatment that was done of a 10-year-old girl child diagnosed with OFD I.

Supernumerary teeth are commonly reported in patients with cleft lip and palate. The presence of a complete duplicate quadrant of teeth, however, is very rare. A patient with orofacial-digital syndrome type IV (Mohr-Majewski) presented with a duplication of the mandibular primary dentition in the right quadrant. Presence of decay and poor oral hygiene dictated intervention and removal of the supernumery teeth. A case report is presented.

The oral-facial-digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one-third of patients but long-term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the OFD1 gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD - 11/16 (69%) if only adults were considered -with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5-38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25-48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype-phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow-up is therefore highly recommended for all OFD I patients.

Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (DDP1) gene. We describe a sporadic 42-year-old man with MTS presenting with postlingual deafness, adult-onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation (g to a transition at the invariant gt of the 5' splice donor site of exon 1) in the DDP1 gene. This case, and a review of previously reported cases, highlights a variety of potential diagnostic pitfalls in this condition., (2007 Movement Disorder Society)

Digitocutaneous dysplasia is a rare X-linked dominant genetic syndrome characterized by multiple digital fibromas, atrophic plaques, dental anomalies, dysmorphic features, and bone anomalies. We report the case of a 2-year-old Mexican girl with this rare condition and discuss the clinical, histologic, and genetic features.

Episodic tachypnea is a typical neonatal presentation of Joubert syndrome, but may also occur in infants with other anomalies of the cerebellar vermis. Even though fetuses at risk for Joubert syndrome are usually closely followed by ultrasound, this respiratory pattern has only once been described prenatally. We describe a patient who presented prenatally with posterior meningocele, Dandy-Walker cyst, and four limb polydactyly on ultrasound. Amniocentesis showed a normal male karyotype and normal 7DHC. At 31 weeks, episodic fetal tachypnea was noted on ultrasound. The working diagnosis was Joubert syndrome or oro-facio-digital syndrome type VI (OFD VI). At birth, in addition to the findings noted prenatally, he had multiple nodules of his tongue, a Y-shaped metacarpal and micropenis. His respiratory pattern was notable for alternating tachypnea and apnea with respiratory rates up to 200 followed by apnea and bradycardia. Magnetic resonance image showed Dandy-Walker with massive 4th ventricle, complete absence of the cerebellar vermis, hypoplastic brainstem, and small meningocele. Development is profoundly delayed and he remains ventilator dependent. Both the previously described Joubert patient with prenatally recognized tachypnea, and our patient are atypical for Joubert syndrome since they have polydactyly (which occurs in only 8% of Joubert patients) and hamartomas of the tongue (which occur in 2%). Despite the tongue hamartomas, these patients are not entirely typical for OFD VI, since their polydactyly is postaxial. The observation of prenatal tachypnea in these two patients, but not in typical Joubert patients, suggests they have either a variant of OFD VI or a new Joubert or OFD-like syndrome.

The development of abnormal oral frena is an important diagnostic feature of several syndromic states. Five such syndromes are reviewed which include Ehlers-Danlos syndrome, infantile hypertrophic pyloric stenosis, holoprosencephaly, Ellis-van Creveld syndrome, and oral-facial-digital syndrome. Each syndrome exhibits relatively specific frena abnormalities, ranging from multiple, hyperplastic, hypoplastic, or absent. 1-8 In addition to abnormal oral frena observed in syndromic conditions, anomalous frena are encountered without other associated phenotypic features of genetic or chromosomal states. 9 This paper is a review of the above stated frena deformities and their management.

We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.

We report on further clinical findings in the one single family in the literature classified as oral-facial-digital (OFD) type VII in order to demonstrate that the diagnosis in this kindred should, in fact, be OFD type I. The mother and the daughter described in the original report have since developed polycystic kidney disease. In addition, the daughter recently had a daughter of her own with central nervous system, oral and digital anomalies. Linkage studies have shown that all the affected women share the same haplotype across the previously identified region Xp22.2p22.3 to which OFD I maps. Although the pedigree was too small for a significant lod score, the combination of clinical and molecular information clearly shows that the disease in this family is OFD I. We report this family in order to clarify and simplify the classification of the oral-facial-digital syndrome spectrum and to recommend the removal of OFD VII from the classification system of the oral-facial-digital syndromes., (Copyright 2003 Wiley-Liss, Inc.)

We describe a second sporadic case, a girl, with the features of Oral-Facial-Digital, type Gabrielli. We comment on several aspects of this condition and confirm this entity as a unique syndrome, different from the other OFDS. To date, the diagnosis is based only on clinical and radiographic findings., (Copyright 2003 Wiley-Liss, Inc.)

Oral-facial-digital syndrome is a group of congenital anomalies, which affects the face, oral structures and digits. There are nine subtypes. OFDS type I, is x-linked dominant trait mostly affecting females. Reports of OFDS type 1 in Asians are extremely rare. This paper shows a case of OFDS type 1, in a southern Chinese girl, who in addition to most of the classic features, had fusion of the mandibular canine and lateral incisor teeth.

We report a case with several congenital anomalies, including polysyndactyly, hypertelorism, partial median cleft of the upper lip, and 2 solitary tongue masses. These features are consistent with oral-facial-digital (OFD) type II syndrome. This case, however, had tongue lipomas with pathosis instead of the usually described tongue hamartomas. In addition, our patient had a sacral dermal pit, which is not a known characteristic of patients with OFD type II. The patient had a younger sister with the same anomalies who died at the age of 10 days and thus was unavailable for examination. We propose to distinguish patients with tongue lipomas and features of OFD type II as a variant of that syndrome.

A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II).

Only recently have intraocular findings been described in oral-facial-digital syndrome (OFDS), including 5 cases of chorioretinal colobomas and 1 case of optic nerve coloboma. We report a case of a new ocular anomaly associated with this syndrome: a retinal hamartoma in a male infant with OFDS. The patient had bilateral retinal masses that were suspicious for retinoblastoma because of a family history of retinoblastoma. Physical examination and imaging studies of the retinal masses could not differentiate between retinoblastoma, hamartoma, or persistent hyperplastic primary vitreous. Subsequent pathologic study of an enucleated globe was diagnostic of a retinal hamartoma. This case further illustrates the heterogeneity of ocular anomalies in OFDS and underscores the importance of a complete ophthalmologic evaluation in patients with this syndrome.

We report a girl with oro-facio-digital syndrome type I (OFD I) associated with polycystic kidney disease (PKD), which was identified on fetal US and fetal MRI. After birth, the diagnosis of this X-linked dominant disorder, which is lethal in males, was achieved by recognition of facial dysmorphism, lingual hamartomas, postaxial polydactyly, brain malformations, and the existence of her deceased male sibling with similar malformations. Adult PKD is a common feature in heterozygous females with OFD I. However, fetal PKD has been reported only in a lethal homozygous male. Our observation expands our knowledge about the phenotypic variations of PKD in OFD I.

We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion. These clinical findings were present in both patients and seem to be consistent with the phenotype of the Gurrieri syndrome. The new features described in these sibs could expand the clinical spectrum of the Gurrieri syndrome and confirm the existence of this rare autosomal recessive condition.

While evaluating a 61-year-old patient for stridor we incidentally detected a double epiglottis. The patient was also diagnosed of having Weyer's acrofacial dysostosis which is characterized by hexadactyly affecting all four extremities, small and deeply set nails, dental deformities with small, conical teeth and mandibular hypoplasia. The double epiglottis was not the cause for the stridor. Because of the covert symptomatology of double epiglottis it is suggested that the association with Weyer's syndrome is common. Embryological evidence and a review of the literature on laryngeal abnormalities is discussed.

We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior cleft palate, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the oral-facial-digital syndrome (OFDS). In addition, she had bilateral microphthalmia, optic disc coloboma, and retinal degeneration with partial detachment, thus establishing a diagnosis of OFDS type IX. Dandy-Walker malformation and retrobulbar cysts were observed on MRI. These additional malformations have not been reported in OFDS type IX. The frequent apnoeic spells which occurred immediately after birth were relieved after cystoperitoneal shunt implantation for hydrocephalus. Considering our case and previous reports of OFDS type IX, including two male sibs, a boy born to consanguineous parents, and three females, inheritance is probably autosomal recessive.

Intracerebral cysts and porencephaly or arachnoid cysts are rarely but are repeatedly reported in orofaciodigital (OFD) syndrome type 1. We report on 2 families in which OFD syndrome type 1 was observed with central nervous system (CNS) malformations and 3 sporadic cases of OFD with CNS defects, most likely representing fresh mutations for OFD 1. In one case, vermis hypoplasia was present; in another, periventricular heterotopiae were noted. We review the literature on CNS anomalies in OFD syndromes and stress the difficulties in genetic counseling and functional prognosis for children of OFD 1 female carriers prenatally diagnosed with a malformation of the brain. As for CNS malformations, renal cystic disease is an often overlooked complication specific to OFD 1. In 1 family, cystic medullary disease was noted in OFD 1 carriers, leading 1 patient to dialysis by age 35 years and the other to severe renal insufficiency by age 28 years. Longitudinal follow-up of OFD 1 carriers should be performed, and renal function should be assessed in those with cysts because the functional prognosis of this developmental anomaly may be worse than usually reported in the literature.

A family with a newly detected X-linked syndrome including sensorineural deafness, mental retardation, dystonia and blindness was examined with full-field electroretinography in order to order to find out if the blindness was caused by a retinal degeneration. Six affected males and 2 obligate carriers showed no signs of retinal degeneration. One of 7 affected males had central areolar choroidal dystrophy confirmed by central scotomas in visual fields and an electroretinographic pattern consisting of an attenuated amplitude as well as a prolonged implicit time of the cone b-wave on stimulation with 30 Hz flickering white light.

We report on a male with severe mental retardation, epilepsy, short stature, and skeletal dysplasia. The syndrome was first delineated by Gurrieri et al. in 1992 [Am J Med Genet 44:315-320]. This case seems to confirm the existence of the Gurrieri syndrome.