Tonni Gabriele, Palmisano Marcella, Ventura Alessandro, Grisolia Gianpaolo, Baffico Ave Maria, Pattacini Pierpaolo, Bonasoni Maria Paola, De Felice Claudio
Department of Obstetrics & Gynecology, Guastalla Civil Hospital, AUSL Reggio Emilia, Guastalla, Italy.
Congenit Anom (Kyoto). 2014 Nov;54(4):233-9. doi: 10.1111/cga.12066.
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.
马耶夫斯基综合征或短肋多指综合征（SRPS）II型是一种致死性骨骼发育不良，其特征为严重的宫内生长受限（IUGR）、面容畸形、多指、出生时头部大小相对正常，随后逐渐发展为小头畸形。本文报告了一例孕中期超声诊断SRPS II型的病例，并回顾了既往观察病例的病历。尸检和X光片证实了临床诊断。股骨骨骺软骨板的组织学检查显示肥大区扩大且不规则。此外，还发现了双肾特征性的皮质髓质囊肿和门静脉纤维化；这些发现与这种罕见骨骼疾病广泛的表型谱一致。
