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Isr J Med Sci ; 31(5): 293-7, 1995 May.
Article in English | MEDLINE | ID: mdl-7538982

ABSTRACT

We describe six children of Arab origin with a syndrome of congenital hypoparathyroidism, severe growth retardation, developmental delay, and dysmorphism. The most prominent dysmorphic features were microcephaly, facial and dental anomalies, and small hands and feet. Bone age was markedly retarded. Neither immunological nor chromosomal abnormalities were found. Insulin-like growth factor-1 serum levels, measured in two patients, were abnormally low.


Subject(s)
Abnormalities, Multiple , Developmental Disabilities/complications , Facial Bones/abnormalities , Growth Disorders/congenital , Hypoparathyroidism/congenital , Microcephaly/complications , Abnormalities, Multiple/blood , Consanguinity , Developmental Disabilities/blood , Female , Growth Disorders/blood , Humans , Hypoparathyroidism/blood , Infant , Infant, Newborn , Insulin-Like Growth Factor I/analysis , Male , Microcephaly/blood , Syndrome
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