1/9. OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.We present 2 sibs with manifestations of oral-facial-digital syndromes (OFD) and Joubert syndrome. The index patient was the 5th child of healthy nonconsanguineous Turkish parents. At birth this female patient had large hydrocephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral frenula, cleft palate, hamartomas of the tongue, postaxial polydactyly of fingers, normal toes, and hypotonia. Cranial MRI showed hydrocephalus and Dandy-Walker malformation. The child had no psychomotor development, was unable to swallow and had severe seizures. She died at 2 months of recurrent apneic episodes. At birth the brother of the index patient showed prominent forehead, broad, deep nasal bridge, cleft palate, multiple hamartomas of the tongue, irregular alveolar ridges, retrognathia, bilateral postaxial polydactyly of the hands and feet, and broad halluces. He had an abnormal breathing pattern with phases of tachypnea and apnea. Cranial MRI showed hydrocephalus, hypoplasia of the cerebellar vermis, Dandy-Walker malformation, and hypomyelination of the corpus callosum. Renal ultrasonography demonstrated multiple small cysts. Ocular fixation was absent and he had a mild nystagmus.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/9. Oral-facial-digital syndrome type II variant associated with congenital tongue lipoma.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.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/9. Prenatal sonographic findings in a case of Varadi-Papp syndrome.OBJECTIVES: We aim to describe a case with oral-facial-digital syndrome type VI (OFDS VI) or Varadi-Papp syndrome where the only prenatal findings were cleft lip and palate and a primum type atrial septal defect (ASD). methods: A 24-year-old pregnant woman, gravida 1 para 0, attended the prenatal clinic for a routine visit at 16 weeks of gestation. Her medical and family history was unremarkable. There was no history of consanguinity, drug or teratogen exposure. Her triple screening test and other routine biochemical and haematological blood tests did not reveal any abnormal results. During routine prenatal sonographic examination at the 16th gestational week, cleft lip and palate including secondary palate on the right side of the face was detected and ASD was suspected. RESULTS: After delivery, prenatally diagnosed cleft lip and palate and primum ASD were confirmed. Postnatally, minimal micrognathia, posteriorly rotated low-set ears, minimal hypertelorism, epicanthal folds, nystagmus, esotropia, broad nasal tip, intraoral frenula and lobed tongue, shawl scrotum and duplicated nail of the index fingers of both hands were also observed. Radiological examination showed partial agenesis of the corpus callosum and partially duplicated terminal phalanx of the index fingers. A diagnosis of Varadi-Papp syndrome was formulated. At one year of age, there was short stature and delayed mental and motor development. CONCLUSION: Understanding the limitations of prenatal ultrasound is very important for the genetic counselling of prospective parents, since major ultrasound findings can be associated with other minor or undetectable features.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/9. Oral-facial-digital type 1 syndrome of Papillon-Leage and Psaume.A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms. She also had diffuse, nonscarring alopecia with wiry, dry hair. Results of roentgenographic and ultrasound studies were normal. At her present age of 11 months, her psychomotor development is appropriate for her age.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/9. The orocraniodigital syndrome of Juberg and Hayward.We report three new isolated cases of orocraniodigital syndrome (Juberg-Hayward syndrome). The main clinical features of this unusual birth defect (six patients from three families described so far) are cleft lip/palate, hypertelorism, bowed and upward slanting eyebrows, thumb hypo/aplasia or proximal/distal thumb displacement, luxation of the radial head, elbow restriction, minor vertebral and rib anomalies, and horseshoe kidneys. New features observed in our patients are severe mental impairment (not correlated with the severity of the malformations), anterior anal displacement, and ptosis. Recessive inheritance is likely, but autosomal dominant inheritance cannot yet be totally ruled out; therefore, genetic counselling of parents of an affected child and of affected patients themselves must be cautious.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/9. Orofaciodigital syndrome with cerebral dysgenesis.orofaciodigital syndromes (OFD) are a group of diseases classified according to the phenotype and the mode of inheritance. We report on a fetus presenting with some features of the OFDs but with additional global cerebral dysgenesis. ultrasonography at 19 weeks of pregnancy disclosed hypoplasia of the cerebral hemispheres with a large intrahemispheric cyst, as well as dysmorphic facial features and brachy-syndactyly IV-V. Fetal brain MRI confirmed these features and disclosed additional morphological anomalies: Agenesis of the vermis, complete agenesis of the corpus callosum, pachygyria of the left hemisphere. Pathological examination showed a disproportionate fetus with large head and short limbs. Dysmorphic features included hypertelorism, broad nasal root, long philtrum, severe micrognathia, microstomia, cleft palate, and lobulated tongue. Radiographs showed distal malformations of the four limbs. Neuropathological examination showed a severe disturbance of the architecture of both hemispheres, more severe on the right side, with four cystic structures located between the hemispheres. Olfactory stalks, mammillary bodies, and midline structures were absent. cerebellum and brainstem were hypoplastic. On the right hemisphere as on most part of the left one, microscopic findings displayed a complete disruption of the developing mantle with disturbance of the neuronal migration. The present fetus fulfilled the diagnosis of OFD syndrome: Dysmorphic features, cleft palate and lobulate tongue and polysyndactylies of the feet and hands. The cerebral involvement would make it closer to OFD type VI, but brain malformations were far more severe in the present case, with complex and generalized cortical dysgenesis, evoking a disturbance occurring at a very early stage of the embryogenesis.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/9. Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median cleft lip and alveolar ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts. This patient resembles seven previously reported patients with the Beemer-Langer syndrome, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median cleft lip with or without cleft palate, flat face, and macrocephaly. Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/9. Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic larynx and epiglottis, mesomelic shortening of limbs with particularly short and broad tibiae, polydactyly of the upper limbs, severely hypoplastic external genitalia with anorchidism, anal atresia, severe congenital heart defect, and renal agenesis. These features show considerable overlap with severe Majewski type short rib-polydactyly syndrome and so expand the known spectrum of anomalies in orofaciodigital syndrome type IV.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/9. Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.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.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |