New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism.
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.
Lerman-Sagie
T
T
Department of Pediatrics B, Beilinson Medical Center, Petah Tiqva, Israel.
Merlob
P
P
Shuper
A
A
Kauli
R
R
Kozokaro
Z
Z
Grunebaum
M
M
Mimouni
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000235:genetics*