A lethal form of neonatal dwarfism characterized by osteochondrodysplasia with narrow thorax, polysyndactyly, disproportionately short tibiae, thorax dysplasia, hypoplastic lungs and respiratory insufficiency. Associated anomalies include protruding abdomen, brachydactyly, peculiar facies, hypoplastic epiglottis, cardiovascular defects (mostly transposition of the great vessels), renal cysts, and genital anomalies. Etiology unknown. Death occurs before or at birth. Inheritance is autosomal recessive.
- F. Majewski, R. A. Pfeiffer, W. Lenz, R. Muller, G. Feil, R. Seiler:
Polysyndaktylie, verkürzte Gliedmassen und Genitalfehlbildungen: Kennzeichen eines selbständigen Syndroms?
Zeitschrift für Kinderheilkunde, Berlin, 1971, 111: 118-138.
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