Teebi hypertelorism syndrome: report of a third family.
We report a mother and daughter who have hypertelorism, mild limb defects, umbilical hernia/omphalocele, natal teeth and minor craniofacial anomalies. These individuals represent the third family with Teebi hypertelorism syndrome, a rare autosomal dominant syndrome.
Toriello
H V
HV
Butterworth Hospital, Grand Rapids, MI.
Delp
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007223:Infant; D009306:Natal Teeth; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome