Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency.
Prune-belly sequence (PBS) usually results from early urethral obstruction. In rare cases, PBS seems to be due to a faulty primary development of the parietal mesenchyme leading to underdevelopment of the abdominal wall musculature, and disorganization of the smooth muscles in the urinary tract. We report on two patients with segmental, unilateral wall musculature deficiency associated with homolateral agenesis of ribs. One patient also had hemivertebrae and the other one ipsilateral diaphragmatic eventration and aplasia cutis. This combination of anomalies may represent a localized deficiency in the development of somitic mesoderm mesenchyme during early embryogenesis.
Department of Clinical Genetics, APHP Robert Debré Hospital, Paris, France. marion.gerard@rdb.aphp.fr
Marion
M
Gerard-Blanluet
Marylin
M
Port-Lis
Clarisse
C
Baumann
Laurence
L
Perrin-Sabourin
Patrick
P
Ebrad
Georges
G
Audry
Anne-Lise
AL
Delezoide
Alain
A
Verloes
D000009:Abdominal Muscles / Q000002:abnormalities* / Q000000981:diagnostic imaging; D034861:Abdominal Wall / Q000002:abnormalities*; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011859:Radiography