THE NEW SYNDROME OF CONGENITAL HYPOPARATHYROIDISM ASSOCIATED WITH DYSMORPHISM, GROWTH-RETARDATION, AND DEVELOPMENTAL DELAY - A REPORT OF 6 PATIENTS

被引：0

作者：

HERSHKOVITZ, E

SHALITIN, S

LEVY, J

LEIBERMAN, E

WEINSHTOCK, A

VARSANO, I

GORODISCHER, R

机构：

[1] BEN GURION UNIV NEGEV,FAC HLTH SCI,BEER SHEVA,ISRAEL

[2] CHILDRENS MED CTR ISRAEL,DEPT C,PETAH TIQWA,ISRAEL

来源：

ISRAEL JOURNAL OF MEDICAL SCIENCES | 1995年 / 31卷 / 05期

关键词：

CONGENITAL HYPOPARATHYROIDISM; DEVELOPMENTAL DELAY; DYSMORPHISM; GROWTH RETARDATION;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：293 / 297

页数：5

共 19 条

[1] CONGENITAL HYPOPARATHYROIDISM, SEIZURE, EXTREME GROWTH FAILURE WITH DEVELOPMENTAL DELAY AND DYSMORPHIC FEATURES - ANOTHER CASE OF THIS NEW SYNDROME
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CLINICAL GENETICS, 1992, 42 (03) : 110 - 113
[2] Hypoparathyroidism-retardation-dysmorphism syndrome in a girl:: A new variant not caused by a TBCE mutation -: Clinical report and review
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[3] A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review
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[5] Hypocalvaria associated with intrauterine growth retardation, facial dysmorphism, congenital heart disease and camptomelia
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[8] Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome
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[9] Mutation in the TBCE Gene Is Associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome Featuring Pituitary Hormone Deficiencies and Hypoplasia of the Anterior Pituitary and the Corpus Callosum
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