Digitotalar dysmorphism with craniofacial and other new associated abnormalities.
We report digitotalar dysmorphism in a grandfather, father, and a daughter. All the affected members had clasped thumbs. The father had a short stature, large zygomatic arch and a flat mandibular condyle. The newly recognized findings found in the affected girl were large maxillary deciduous central incisors, a short proximal phalanx of the second finger, and a large subcutaneous hemangioma of the back. Her paternal grandfather had only congenital clasped thumbs. Congenital clasped thumb is a very heterogeneous anomaly and related to many syndromes. The findings in the reported family which are consistent with digitotalar dysmorphism, include congenital clasped thumbs, ulnar deviation of fingers, and a congenital vertical tali.
Kantaputra
P N
PN
Department of Paediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand. dnpdi001@chiangmai.ac.th
Chalidapong
P
P
Visrutaratna
P
P
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005192:Family Health; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D007223:Infant; D008297:Male; D013933:Thumb / Q000002:abnormalities*