Preferred Label : Marfanoid habitus with microcephaly and glomerulonephritis;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Houlston et al. (1992) described 2 sisters with mental retardation, microcephaly,
marfanoid habitus, and glomerulonephritis. Microcephaly, present at birth, was associated
in both with prominent fourth ventricles by computerized tomographic scans, but no
other cerebral anomalies. Both had relatively tall stature, highly arched palate,
prognathism, arachnodactyly, and joint laxity. One also had dorsal kyphosis. In both,
glomerulonephritis was diagnosed during the second decade. Mental retardation was
moderate in severity (IQs 48 and 50). Renal failure necessitated dialysis and transplantation.
The older sister was 18 years of age at the time of report. *FIELD* RF 1. Houlston,
R. S.; Iraggori, S.; Murday, V.; Scrine, M.; Macdermot, K.; Slack, J.; Rees, L.: Microcephaly,
focal segmental glomerulonephritis and marfanoid habitus in two sibs. Clin. Dysmorph.
1: 111-113, 1992. *FIELD* CS Neuro: Mental retardation;
Inheritance : Autosomal recessive;
Prefixed ID : 248760;
Origin ID : 248760;
UMLS CUI : C1855348;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
