Preferred Label : Skeletal dysplasia and progressive central nervous system degeneration, lethal;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Khosravi et al. (1998) described 3 sibs (2 males, 1 female) with multiple congenital
anomalies, poor growth, seizures, and progressive central nervous system degeneration
leading to death in infancy. Radiographic changes were similar and included moderate
shortness of long bones, platyspondyly, and hypoplastic pelvis. Autopsies showed diffuse
encephalomyelopathy and enlargement of the lateral and third ventricles. Lysosomal
enzyme activities were normal. Collagen type II analysis on 2 of the sibs indicated
normal collagen. Although the radiographic and chondroosseous morphologic findings
in these sibs bore certain similarities to Dyggve-Melchior-Clausen syndrome (223800),
their clinical course did not fit that condition. Thus, Khosravi et al. (1998) suggested
that they represent a new syndrome of bone dysplasia and CNS degeneration inherited
as an autosomal recessive. Two of the sibs died at age 5 months; 1 died at the age
of almost 4 months after being on respiratory assistance for 7 weeks. *FIELD* RF 1.
Khosravi, M.; Weaver, D. D.; Bull, M. J.; Lachman, R.; Rimoin, D. L.: Lethal syndrome
of skeletal dysplasia and progressive central nervous system degeneration. Am. J.
Med. Genet. 77: 63-71, 1998. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 602613;
Origin ID : 602613;
UMLS CUI : C1865117;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
