Familial syndrome of unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss in two siblings. Is it a new autosomal recessive syndrome?
We present a previously undescribed syndrome characterized by triangular facial appearance, mid-facial hypoplasia, cleft palate and mild sensorineural hearing loss in two siblings. The parents were unrelated. The patients' stature and intelligence were normal. We suggest that the inheritance is autosomal recessive.
Balcı
Sevim
S
Department of Clinical Genetics, Hacettepe University İhsan Doğramacı Children's Hospital, Ankara, Turkey Department of Plastic and Reconstructive Surgery, Hacettepe University, Hospital, Ankara, Turkey Department of Oral Surgery, Hacettepe University Hospital, Ankara, Turkey.
Akcan
Barış
B
Vargel
İbrahim
İ
Tümer
Celal
C
Enacar
Ayhan
A
D000015:Abnormalities, Multiple; D000293:Adolescent; D002648:Child; D002972:Cleft Palate / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D008297:Male; D008310:Malocclusion / Q000473:pathology*; D035781:Siblings; D013577:Syndrome