TAR syndrome with orofacial clefting.
A case of TAR syndrome with bilateral cleft lip and palate is presented. Bilateral symmetric focomelia, normal thumbs among five fingers of hands, synostosis of IVth and Vth metacarpal bones and some defects of lower limbs with associated thrombocytopenia were noted. Dysmorphic facial features included hypertelorism, epicanthus, blue sclerae, broad nasal root, micrognathia, low-set ears, sparse blond hair. To our knowledge this patient represents an unusual association of TAR syndrome with orofacial clefting. A common background of TAR and Roberts/SC syndrome is suggested.
Midro
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Department of Clinical Genetics, Medical Faculty, Białystok, Poland.
Hubert
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Preferansow
J
J
Iwaszkiewicz-Pawłowska
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D000015:Abnormalities, Multiple / Q000473:pathology*; D002971:Cleft Lip / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000473:pathology*