Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?
Casamassima-Morton-Nance syndrome belongs to the heterogeneous group of spondylocostal dysostoses (SCD) represented by a large heterogeneous group in which diverse diagnoses, associations and modes of inheritance are found. Common features include segmentation abnormalities of the vertebrae and ribs. Here, we report on a fetal case with spondylocostal dysostosis, anal and genitourinary malformations and discuss Casamassima-Morton-Nance syndrome.
Thauvin-Robinet
Christel
C
Laurent
Nicole
N
Rousseau
Thierry
T
Couvreur
Stéphanie
S
Cusin
Véronica
V
Callier
Patrick
P
Mugneret
Francine
F
Durand
Christine
C
Huet
Frédéric
F
Sagot
Paul
P
Faivre
Laurence
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities*; D004413:Dysostoses / Q000235:genetics / Q000473:pathology*; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D012272:Ribs / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000235:genetics*