1/8. Fraser's syndrome.A full term female baby at birth showed the features of Fraser's syndrome viz. upper lid coloboma, cryptophthalmos, abnormal groove over temporal region, dysmorphic facies, hypospadias and bilateral syndactyly. On ultrasound examination of the abdomen and left orbit, maldeveloped kidney and eyeball were found. Other siblings were not affected. The child died at the age of 3 months.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
2/8. Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?A family is described with type III syndactyly and facies resembling the oculodentodigital dysplasia facial phenotype in the absence of any of the other characteristic findings of the latter condition. The relationship between type III syndactyly and oculodentodigital dysplasia is discussed.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
3/8. Endocrine function in sclerosteosis.Sclerosteosis is a rare autosomal recessive condition which is characterized by excessive skeletal overgrowth, distortion of the facies, cranial nerve abnormalities and raised intracranial pressure. syndactyly and digital malformation are associated features. Radiological examination reveals thickened sclerotic bone maximally involving the skull, including the pituitary fossa. Sclerosis and hyperostosis are present throughout the skeleton. Biochemical and endocrine tests were carred out on 3 patients with sclerosteosis in an attempt to detect any dysfunction of calcium regulation of the pituitary. Results revealed no abnormality of basal parathyroid or calcitonin secretion. Histological examination revealed quantitatively increased bone resorption in comparison with normal subjects, although the pattern resembled osteosclerosis. Regulation of growth hormone, adrenocorticotrophin, gonadotrophin and thyrotrophin function were intact. We conclude that pituitary function and calcium 'homeostasis' are normal in this disorder.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
4/8. Cryptophthalmos syndrome with bilateral renal agenesis.We conducted a postmortem study of an infant with the abortive form of the cryptophthalmos syndrome. He had syndactyly and anal atresia and also showed features of Potter's (renal nonfunction) syndrome, including bilateral renal agenesis, pulmonary hypoplasia, and the typical facies. Histopathologic examination of both globes disclosed that the superior eyelid folds were partially replaced by skin that fused with the superior third of each cornea; there were also anomalies of the superior canaliculi and scarring of the corneas. We found no specific abnormality of the intraocular contents.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
5/8. syndactyly type 1 with cataracts and mental retardation.We report a child affected by a malformation syndrome characterized by unusual facies, congenital cataracts, mental retardation, bilateral soft tissue syndactyly of the 3rd and 4th fingers and bilateral partial syndactyly of the 2nd and 3rd toes. The overall clinical picture in this patient is not similar to other cases previously reported.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
6/8. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, and syndactyly of both feet. Her daughter had the same anal, clitoral, and foot anomalies, a solitary pelvic kidney, and no fistula. This family is likely to represent autosomal dominant inheritance of a new combination of malformations, which may overlap with the Townes-Brocks syndrome, but does not fall into a current diagnostic category.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
7/8. The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family.We report two siblings--a 5 1/2 year old female and her 4 1/2 year old brother, both presenting the classical clinical findings of oculo-dento-digital dysplasia (ODD). 1. Digital anomalies: bilateral complete cutaneous syndactyly of fingers IV-V (III-IV-V at the left hand of the boy) and camptodactyly IV. 2. Facial and ocular anomalies: microphtalamos-epicanthal folds, small midfacies, thin nose with hypoplastic alae nasi and small nares. 3. Dental anomalies with partial dental agenesis and enamel hypoplasia. Examination of the parents showed a bilateral cutaneous syndactyly IV-V in the father as the sole partial manifestation of ODD. The findings in the present family confirm the autosomal dominant inheritance of ODD with great variability in clinical expression. Moreover, the facial morphology (thin, hypoplastic nose) observed in several ODD patients suggests nosological overlap with the Hallerman-Streiff syndrome and could indicate that both syndromes are variable expressions of a contiguous gene deletion syndrome.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
8/8. A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis.We describe a woman with a probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. Other findings included syndactyly, typical facies, dental abnormalities, dermatoglyphic hypoplasia, epidermal ridge sweat pore count slightly below normal, and keratosis pilaris. Clinical studies and genetic analysis excluded the diagnosis of tuberous sclerosis in our patient. We conclude that she has ectodermal dysplasia associated with mental retardation. This association has been described previously; it suggests the possible interrelationship of a community of ectodermal dysplasia syndromes with a distinctive structural hair abnormality (pili torti et canaliculi), variable midfacial malformations, limb defects, and other features such as mental retardation. The similarity of our patient to that described by Whiting et al. and Abramovits-Ackerman et al. suggests the autonomy of this syndrome.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |