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At least 163 records · Page 9Linked to original sources
PubMed1987

Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: a new syndrome?

Two sibs who had hypesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, sensorineural hearing loss bilaterally, persistent ductus arteriosus, moderate mental retardation, and unusual facial appearance are described. Their mother had mild to moderate sensorineural hearing loss, retinal changes and similar facial features. The differential diagnosis is discussed. We believe this is a clinically distinct syndrome with autosomal dominant inheritance.

Abnormalities, Multiple↗
PubMed1989

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.

We describe five patients with Fryns syndrome. Four presented with diaphragmatic hernia and died in the neonatal period. One did not have diaphragmatic involvement and survived but is severely mentally retarded. All patients had "coarse" faces, microretrognathia, macrostomia, and distal digital hypoplasia. In addition to previously reported traits, our patients had clinical manifestations that have not previously been described, including omphalocele, broad clavicles, Hirschsprung "disease," and anal anomalies. The condition was detected antenatally in three of the cases. The patients include two sib pairs, further supporting autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1981

The Larsen syndrome with multiple congenital dislocations and a normal facies.

Details of four children with congenital skeletal abnormalities are reported. In one, typical of the Larsen Syndrome, and autosomal dominant pattern of inheritance is demonstrated. The three others show marked skeletal abnormalities similar to those seen in the Larsen Syndrome but without the usual characteristic facial features.

Abnormalities, Multiple↗