Preferred Label : Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Van Gemund et al. (1969) described 2 boys, offspring of first-cousin parents, who
were 'small for dates' at birth and showed marked dwarfism, severe mental retardation,
and congenital deafness. One relative was congenitally deaf with normal stature and
intellect. A maternal uncle showed marked dwarfism and severe mental retardation,
but was not deaf. Insulin-induced hypoglycemia evoked excessively high levels of immunoreactive
hGH. They did not show increased sensitivity to fatty acid levels. Orally administered
glucose suppressed hGH and evoked insulin secretion. Exogenous hGH did not decrease
urinary nitrogen excretion or increase urinary hydroxyproline excretion. Growth-promoting
effects of exogenous testosterone were intact. Unresponsiveness to somatotropic effects
of hGH was postulated. The consanguinity suggests autosomal recessive inheritance.
Since a maternal uncle had dwarfism and mental retardation, X-linked recessive inheritance
is a possibility. *FIELD* RF 1. Van Gemund, J. J.; Laurent de Angulo, M. S.; Van Gelderen,
H. H. : Familial prenatal dwarfism with elevated serum immuno-reactive growth hormone
levels and end-organ unresponsiveness. Maandschr. Kindergeneesk. 37: 372-382, 1969.
*FIELD* CS Growth: Prenatal growth retardation; Dwarfism Neuro: Mental retardation;
Inheritance : Autosomal recessive vs. X-linked;
Prefixed ID : 223500;
Origin ID : 223500;
UMLS CUI : C1857197;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
