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.
Gerard-Blanluet
Marion
M
Department of Clinical Genetics, APHP Robert Debré Hospital, Paris, France. marion.gerard@rdb.aphp.fr
Port-Lis
Marylin
M
Baumann
Clarisse
C
Perrin-Sabourin
Laurence
L
Ebrad
Patrick
P
Audry
Georges
G
Delezoide
Anne-Lise
AL
Verloes
Alain
A
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