Oto-palato-digital syndrome in an Iranian infant.
A male infant is presented with wide fontanels, micrognathia, mid-face hypoplasia, hypertelorism, broad nasal root, down-slanting palpebral fissures, small thorax, funnel chest, short wide toes, camptodactyly and cutaneous syndactyly of fingers and toes, dysplastic bones with thin wavy ribs and bowed femore, cryptorchidism, and hypospadias grade I. The mother of this infant showed some signs of the same condition, including hypertelorism, micrognathia, small nose with depressed bridge, flat mid-face, impacted teeth and small chest. This case shows many similarities to oto-palatal-digital syndrome types I and II.
Farhud
D D
DD
Department of Human Genetics and Anthropology, Amir-Kabir Hospital, Tehran Medical Science University, Vallie Assr Sq.
Walizadeh
G R
GR
Farhud
I
I
D000015:Abnormalities, Multiple / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005660:Funnel Chest / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007492:Iran; D008297:Male; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome