Werner mesomelic dysplasia with Hirschsprung disease.
Mesomelic dysplasia type Werner is defined by absence of tibiae and preaxial polysyndactyly of hands and feet. Occasional findings are triphalangeal thumbs, absence of patella(e), and dislocated fibula(e). The molecular basis is unknown and autosomal dominant inheritance with variable expressivity is currently postulated. Hirschsprung disease was reported previously in one case. We report here on a new case of mesomelic dysplasia Werner type associated with Hirschsprung disease and bilateral cryptorchidism. We discuss the overlap with the triphalangeal thumb polysyndactyly syndrome located in chromosome 7q36.
Goldenberg
Alice
A
Department of Medical Genetics, Necker-Enfants-Malades Hospital, 149 rue de Sèvres, 75043 Paris cedex 15, France.
Milh
Mathieu
M
de Lagausie
Pascal
P
Mesnage
Renaud
R
Benarif
Fatiha
F
de Blois
Marie-Christine
MC
Munnich
Arnold
A
Lyonnet
Stanislas
S
Cormier-Daire
Valérie
V
D000015:Abnormalities, Multiple / Q000473:pathology*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003456:Cryptorchidism / Q000150:complications; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006627:Hirschsprung Disease / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013576:Syndactyly / Q000473:pathology*; D013933:Thumb / Q000002:abnormalities; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities