title: The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.
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.
authors.affiliation: Division of Pediatrics, Soroka Medical Center, Beer Sheva, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Hershkovitz
authors.forename: S
authors.initials: S
authors.lastname: Shalitin
authors.forename: J
authors.initials: J
authors.lastname: Levy
authors.forename: E
authors.initials: E
authors.lastname: Leiberman
authors.forename: A
authors.initials: A
authors.lastname: Weinshtock
authors.forename: I
authors.initials: I
authors.lastname: Varsano
authors.forename: R
authors.initials: R
authors.lastname: Gorodischer
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood; D003241:Consanguinity; D002658:Developmental Disabilities / Q000097:blood / Q000150:complications*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000097:blood / Q000151:congenital*; D006801:Humans; D007011:Hypoparathyroidism / Q000097:blood / Q000151:congenital*; D007223:Infant; D007231:Infant, Newborn; D007334:Insulin-Like Growth Factor I / Q000032:analysis; D008297:Male; D008831:Microcephaly / Q000097:blood / Q000150:complications*; D013577:Syndrome
chemical_list: D007334:Insulin-Like Growth Factor I