Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys.
The Majewski syndrome or short rib-polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, polydactyly, relatively proportionate head size at birth with later progression to microcephaly. A case of second trimester ultrasound diagnosis of SRPS type II is reported with review of the medical record of previous observed cases. Postmortem examination and radiogram confirmed the clinical diagnosis. Histological examination of the femoral epypheseal chondral plate showed an expanded and irregular hypertrophic zone. Moreover, characteristic cortico-medullary cysts of both kidneys and portal fibrosis were also demonstrated; findings consistent with the broad phenotypic spectrum of this rare skeletal disease.
Department of Obstetrics & Gynecology, Guastalla Civil Hospital, AUSL Reggio Emilia, Guastalla, Italy.
Gabriele
G
Tonni
Marcella
M
Palmisano
Alessandro
A
Ventura
Gianpaolo
G
Grisolia
Ave Maria
AM
Baffico
Pierpaolo
P
Pattacini
Maria Paola
MP
Bonasoni
Claudio
C
De Felice
D000328:Adult; D005260:Female; D006132:Growth Plate / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging* / Q000473:pathology; D008099:Liver / Q000000981:diagnostic imaging* / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging* / Q000473:pathology; D016216:Ultrasonography, Prenatal
Majewski syndrome; lethal skeletal dysplasia; postmortem examination; prenatal ultrasound diagnosis; short-rib polydactyly syndrome