Pterygia associated with otomandibular anomalies: a new autosomal recessive condition?
We report a male baby with an unusual pattern of malformations comprising severe micrognathia, ear abnormalities and popliteal and elbow webbing. Absence of a single phalanx in the fifth finger of each hand was also noted. Although there is no clear diagnosis there is a history of parental consanguinity and we suggest this may represent a new autosomal recessive disorder.
Williams
D K
DK
Clinical Genetics Department, Leicester Royal Infirmary NHS Trust, UK.
McKeever
P
P
Barrow
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D004423:Ear / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007569:Jaw Abnormalities / Q000235:genetics; D008297:Male; D011625:Pterygium / Q000235:genetics*; D013577:Syndrome