A rare congenital dwarfing skeletal dysplasia. It is characterized by hydrops, ascites, median cleft of the upper lip, bulbous nose, broad nasal bridge, narrow chest, protuberant abdomen, and short and bowed limbs. Additional defects include brachydactyly, malformed ears, omphalocele, ambiguous genitalia, and intestinal malrotation. Heart sign related to double-outlet right ventricle. Etiology unknown. Inheritance is autosomal recessive. The syndrome was originally reported in two unrelated infants who died shortly after the birth.
- F. A. Beemer, L. O. Langer, J. M. Klep-de-Pater, A. M. Hemmes, J. B. Bylsma, R. M. Pauli, T. L. Myers, C. C. Haw:
A new short rib syndrome: report of two cases.
American Journal of Medical Genetics, New York, 1983, 14: 115-123. L. O. Langer is the U. S. radiologist Leonard O. Langer, born 1928. He is eponymously associated with Langer's mesomelic dwarfism, and Langer's syndrome (Léri-Weill syndrome).
- F. Beemer, I. Ertbruggen:
Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethaloutcome.
American Journal of Medical Genetics, New York, 1984, 19: 391-394.