Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia in a male infant.
We report on a male infant with an unusual type of acrocephalosyndactyly presenting with unilateral coronal craniosynostosis, cutaneous syndactyly of toes 2 and 3, loss of distal triradii, and transverse alignment of dermal ridges of the palm suggesting syndactyly, atresia of the proximal jejunum, and anal stenosis.
Pfeiffer
R A
RA
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.
Rinnert
S
S
Popp
R
R
Röckelein
G
G
D000168:Acrocephalosyndactylia / Q000235:genetics*; D003878:Dermatoglyphics; D005260:Female; D005385:Fingers; D005500:Follow-Up Studies; D007839:Functional Laterality; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000235:genetics*; D007583:Jejunum / Q000002:abnormalities*; D008297:Male; D009679:Nuclear Family; D012868:Skin Abnormalities; D013577:Syndrome; D014034:Toes