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1/4. Short rib syndrome--Beemer type in sibs.

    The short rib (polydactyly) syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically by short limbs, median cleft upper lip and palate, narrow thorax, and protuberant abdomen, and radiologically by short ribs, short and bowed long bones, and mild platyspondyly. Two affected female sibs are described, one having a preaxial polydactyly of the feet. The differentiation with the short rib syndrome Majewski type relies mainly on the radiological appearance of the tibia. molecular biology may eventually prove whether the 2 conditions are truly separate entities or not.
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keywords = tibia
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2/4. Early prenatal diagnosis of short rib-polydactyly (SRP) syndrome type I (Majewski) by ultrasound in a case at risk.

    Short rib-polydactyly (SRP) syndrome Type I was diagnosed accurately in an at-risk fetus at 16 weeks of gestation by real-time sonography. The most important findings were a narrow thorax, significant shortening of the long bones, particularly the tibiae, and--by directed search--the polydactyly.
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keywords = tibia
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3/4. Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea.

    We present a female patient with laryngeal anomalies, tracheostenosis and pre- and postaxial polydactyly. Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (OFD) type II syndrome. Three similar cases of OFD syndrome with hypoplasia of the larynx, epiglottis and/or trachea without tibial dysplasia have been previously reported by Silengo and Temtamy and McKusick. The present patient adds one more case to this group of variants of OFD syndrome. We believe that those cases may be considered to form a separate subentity of OFD syndromes although overlapping features within the different subtypes make a precise classification very difficult.
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keywords = tibia
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4/4. short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?

    We describe two patients with short rib-polydactyly syndrome (SRPS) from two unrelated Spanish families. These patients present clinical and radiological characteristics that overlap those of the different established types of SRPS. In addition, one patient had anencephaly and the other patient had severe brain abnormalities with a family history of an older sister with anencephaly, and a brother diagnosed with SRPS. This second family is interesting in that the two affected brothers present with different clinical and radiological findings; for example, one had ovoid tibiae and the other did not. This particular family shows that intrafamiliar variation is also observed within SRPS. It remains unsettled whether these cases might be considered a new type of SRPS or a variant of an established entity or whether the differences between the SRPS represent variability or heterogeneity. Molecular studies may answer this question in the near future.
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keywords = tibia
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