A rare, potentially lethal malformation complex syndrome with the characteristic congenital triad of malformations: corneal clouding, hypoplasia of the distal extremities, and diaphragm defects.
A rare, potentially lethal malformation complex syndrome with the characteristic congenital triad of malformations: corneal clouding, hypoplasia of the distal extremities, and diaphragm defects. Other features include coarse facies, cleft soft palate and pulmonary hypoplasia. The syndrome has been described in children with consanguineous parents. Inheritance is autosomal recessive.
Fryns and collaborators in 1979 reported two female siblings with the major anomalies of: coarse face with small eyes and cloudy cornea, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb deformities.
- J. P. Fryns, F. Moerman, P. Goddeeris, C. Bossuyt, H. van den Berghe:
A new lethal syndrome with cloudy cornea, diaphragmatic defects and distal limb deformities.
Human Genetics, Berlin, 1979, 50 (1): 65-70.
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