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2013, Number 2

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Rev Cub Gen 2013; 7 (2)

Short ribs with Saldino-Noonan type polydactyly: a case presentation

Pérez TJ, Tejeda VA, Córdova RAC, López BL, Fuentes FM

Language: Spanish
References: 9
Page: 38-41
PDF size: 750.95 Kb.


ABSTRACT

Short ribs with polydactyly syndromes are a heterogeneous group of lethal osseous dysplasias with autosomal recessive inheritance. They are characterized by a marked ribs shortening, short limbs, polydactyly and multiple visceral anomalies including cardiac, renal, hepatic, genital and pancreas defects. The five described types are: SCCP I (Saldino-Noonan type), SCCP II (Majewski type), SCCP III (Verma-Naumoff type), SCCP IV (Beemer-Langer type) and SCCP V. Due to the phenotypic superposition, there exists controversy regarding whether the variants respond to the variable expression or to the genetic heterogeneity. The objective of this paper is to present the case of a male fetus, having osseous dysplasia echocardiographic signs deceased in utero. The post-mortem clinical and radiological examination provided the necessary elements to diagnose a Saldino-Noonan type short ribs with polydactyly syndrome.


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