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At least 217 records · Page 12Linked to original sources
PubMed1976

Growth retardation, dysmorphic facies and minor malformations following massive exposure to phenobarbitone in utero.

A syndrome of facial dysmorphism, pre- and postnatal growth deficiency, developmental delay and minor malformations is described in two siblings. The facial anomalies consist of short nose with low nasal bridge, hypertelorism, epicanthic folds, ptosis of eyelid (patient 2), lowset ears, wide mouth with protruding lips and relative prognathism. Patient 2 in addition had a cleft soft palate and a hypoplastic phalanx of his fifth fingers. Both siblings were exposed to extraordinary high levels of phenobarbitone (5.0-8.6 mg/100 ml) in utero. The same clinical picture has been reported by others following use of phenytoin in pregnancy, and the term "fetal hydantoin syndrome" has been proposed. Since the syndrome seems to occur both following exposure to phenytoin and to phenobarbital this term should probably be avoided. This interesting coincidence indicates that the drugs may have a similar mechanism of action on the development of the fetus.

Abnormalities, Drug-Induced↗
PubMed1975

A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.

This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.

Cataract↗
PubMed1977

A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy.

This paper describes 6 individuals, occurring in 3 generations of a single family, who were affected by a distinct syndrome which included: retardation and microcephaly; a small oval face with almond-shaped eyes, droopy eyelids, a small nose, and small downturned mouth; minor acral skeletal anomalies, and short stature. Craniosynostosis, heart defects, and limited elbow extension were seen less frequently. Expression was variable and parents who were in the direct vertical line of transmission of the syndrome showed few, if any, overt signs of the disease. However, the metacarpal/phalangeal profile of the parents showed a similar pattern to that seen in the affected individuals, and it is suggested that this profile may be the most sensitive indicator of carrier status.

Adolescent↗
PubMed1978

Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

Two sibs of a consanguineous mating are described. Both have a gross costovertebral segmentation defect affecting nearly all the thoracic vertebrae, and mesomelia of the limbs, with the upper limbs being obviously more affected than the lower. The facial appearances of the two are identical, with hypertelorism, depressed nasal bridge, large bony upper lip, constantly open mouth, and peg-like teeth. We believe this combination has not been described before and represents the effect of a 'new' recessive gene. We would like to name this combination Covesdem syndrome (costovertebral segmentation defect with mesomelia).

Bone and Bones↗
PubMed1979

Night blindness, characteristic facies, and skeletal abnormalities in two brothers.

Two brothers are described with a similar physical appearance characterised by minor periorbital anomalies, malar flatness, a maxillary overbite, retrognathia, sloping shoulders, joint hyperextensibility, and minor radiological anomalies. In addition, they had a slowly progressing night blindness, myopia, and extinguished electroretinograms. The mother had mild expression of some of the physical anomalies and a decreased electroretinogram response to red light. We have been unable to find any report of similarly affected children. The possible modes of inheritance are discussed.

Abnormalities, Multiple↗
PubMed1989

A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.

Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformations, autosomal recessive inheritance seems likely.

Abnormalities, Multiple↗
PubMed1991

A new recessive syndrome of unusual facies and multiple structural abnormalities.

Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive inheritance seems likely.

Abnormalities, Multiple↗