NEW FINDINGS IN A PATIENT WITH DUBOWITZ SYNDROME - VELOPHARYNGEAL INSUFFICIENCY AND HYPOPARATHYROIDISM

被引：9

作者：

LERMANSAGIE, T

MERLOB, P

SHUPER, A

KAULI, R

KOZOKARO, Z

GRUNEBAUM, M

MIMOUNI, M

机构：

[1] BEILINSON MED CTR, DEPT NEONATOL, IL-49100 PETACH TIQWA, ISRAEL

[2] BEILINSON MED CTR, DEPT PEDIAT RADIOL, IL-49100 PETACH TIQWA, ISRAEL

[3] BEILINSON MED CTR, DEPT ENDOCRINOL, IL-49100 PETACH TIQWA, ISRAEL

[4] TEL AVIV UNIV, SACKLER SCH MED, TEL AVIV, ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 02期

关键词：

Dubowitz syndrome; hypoparathyroidism; velopharyngeal insufficiency autosomal recessive inheritance;

D O I：

10.1002/ajmg.1320370215

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a boy with Dubowitz syndrome and hypoparathyroidism from which he recovered, only to redevelop it at 6 years. He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency. Although a submucous cleft palate is a well-known manifestation of Dubowitz syndrome, velopharyngeal insufficiency has not been previously described.

引用

页码：241 / 243

页数：3

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