TY - JOUR
T1 - Brief clinical report
T2 - New findings in a patient with Dubowitz syndrome: Velopharyngeal insufficiency and hypoparathyroidism
AU - Lerman-Sagie, T.
AU - Merlob, P.
AU - Shuper, A.
AU - Kauli, R.
AU - Kozokaro, Z.
AU - Grunebaum, M.
AU - Mimouni, M.
PY - 1990
Y1 - 1990
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
UR - http://www.scopus.com/inward/record.url?scp=0025027286&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320370215
DO - 10.1002/ajmg.1320370215
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C2 - 2248292
AN - SCOPUS:0025027286
VL - 37
SP - 241
EP - 243
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 0148-7299
IS - 2
ER -