Brief clinical report: New findings in a patient with Dubowitz syndrome: Velopharyngeal insufficiency and hypoparathyroidism

T. Lerman-Sagie; P. Merlob; A. Shuper; R. Kauli; Z. Kozokaro; M. Grunebaum; M. Mimouni

doi:10.1002/ajmg.1320370215

Brief clinical report: New findings in a patient with Dubowitz syndrome: Velopharyngeal insufficiency and hypoparathyroidism

T. Lerman-Sagie^*, P. Merlob, A. Shuper, R. Kauli, Z. Kozokaro, M. Grunebaum, M. Mimouni

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	241-243
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	37
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.1320370215
State	Published - 1990
Externally published	Yes

Keywords

Dubowitz syndrome
hypoparathyroidism
velopharyngeal insufficiency autosomal recessive inheritance

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10.1002/ajmg.1320370215

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title = "Brief clinical report: New findings in a patient with Dubowitz syndrome: Velopharyngeal insufficiency and hypoparathyroidism",

abstract = "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.",

keywords = "Dubowitz syndrome, hypoparathyroidism, velopharyngeal insufficiency autosomal recessive inheritance",

author = "T. Lerman-Sagie and P. Merlob and A. Shuper and R. Kauli and Z. Kozokaro and M. Grunebaum and M. Mimouni",

year = "1990",

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AU - Shuper, A.

AU - Kauli, R.

AU - Kozokaro, Z.

AU - Grunebaum, M.

AU - Mimouni, M.

PY - 1990

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N2 - 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.

AB - 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.

KW - Dubowitz syndrome

KW - hypoparathyroidism

KW - velopharyngeal insufficiency autosomal recessive inheritance

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Brief clinical report: New findings in a patient with Dubowitz syndrome: Velopharyngeal insufficiency and hypoparathyroidism

Abstract

Keywords

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