The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients

Autor:	E, Hershkovitz, S, Shalitin, J, Levy, E, Leiberman, A, Weinshtock, I, Varsano, R, Gorodischer
Rok vydání:	1995
Předmět:	Male Hypoparathyroidism Developmental Disabilities Infant Newborn Infant Syndrome Facial Bones Consanguinity Microcephaly Humans Abnormalities Multiple Female Insulin-Like Growth Factor I Growth Disorders
Zdroj:	Israel journal of medical sciences. 31(5)
ISSN:	0021-2180
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::da29be60c120734fb703df4baa5abec9 https://pubmed.ncbi.nlm.nih.gov/7759229 Zobrazit plný text záznamu