Familial laryngomalacia in two siblings with syndromic features.
We present two siblings with severe laryngomalacia requiring surgical intervention during the newborn period, microcephaly, developmental delay, cleft palate, preaxial polydactyly, dysplastic nails and conductive hearing loss (persistent after tympanostomy tube placement). In addition the girl has microopthalmia and the boy was born with a patent ductus arteriosus, mild pelviectasis, and hypospadias. This combination of multiple congenital anomalies has not been described previously and may represent a previously undescribed syndrome with autosomal inheritance.
Chen
Judy L
JL
Department of Otolaryngology, Stanford University, 801 Welch Road, Stanford, CA 94305, United states. ilchen@stanford.edu <ilchen@stanford.edu>
Messner
Anna H
AH
Chang
Kay W
KW
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities*; D008297:Male; D013577:Syndrome