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DOI:10.1111/j.1399-0004.1996.tb02373.x - Corpus ID: 39892274
@article{Elcioglu1996ShortRS, title={Short rib‐polydactyly syndrome in twins: Beemer‐Langer type with poly dactyly}, author={Nursel H Elcioglu and Guner Karatekin and Betul Sezgin and Asiye Nuhoǧlu and Asim Cenani,}, journal={Clinical Genetics}, year={1996}, volume={50}, url={https://api.semanticscholar.org/CorpusID:39892274}}- N. Elcioglu, G. Karatekin, A. Cenani,
- Published in Clinical Genetics 1 September 1996
- Medicine
It is shown that premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism are associated with a lethal short rib‐polydactyly syndrome.
7 Citations
1
7 Citations
- G. VujanićN. C. Hunt
- 2000
Medicine
Pediatric and developmental pathology : the…
This case of a male infant born at 37 weeks gestation with multiple congenital anomalies is presented, indicating a further case of the Beemer-Langer syndrome, a relatively recently described form of lethal osteochondrodysplasia with an autosomal recessive mode of inheritance.
- 2
- N. HoC. FrancomanoC. FrancomanoM. I. V. Allen
- 2000
Medicine
American journal of medical genetics
A family in which two children have mild JS and one has SRP type III is presented as evidence that JS and SRPtype III are variants of the same disorder.
- 54
- PDF
- M. E. BlancoJ. M. ValdesS. Kofman‐AlfaroJ. ZentenoM. Cabrera
- 1998
Medicine
A stillborn female with most of the clinical, histologic, and radiographic characteristics of the short rib-polydactyly syndrome (SRPS) type IV (Beemer-Langer) but also presenting prominent metaphyseal and scapular irregularities and spiking supports the suggested hypothesis that the SRPS alternative manifestations of a single genetic entity.
- 1
- M. TürkmenK. Temoçin N. Elcioglu
- 2003
Medicine
The Turkish journal of pediatrics
An infant is reported whose radiological, clinical and postmortem features were consistent with type IV SRPS (Beemer-Langer), a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies.
- 10
- M. de BoutrayJ. BéziatJ. YachouhM. BigorreA. GleizalG. Captier
- 2016
Medicine
Journal of cranio-maxillo-facial surgery…
- 15
- Harold Chen
- 2016
Medicine, Biology
- P. Sa
- 2008
Medicine, Agricultural and Food Sciences
- 3
- S. YangJ. RothL. Langer
- 1991
Medicine
American journal of medical genetics
A male fetus with short rib (polydactyly) syndrome, Beemer-Langer type was aborted at 30 weeks' gestation because of abnormalities visualized on sonography. This is the first documented case with…
- 39
- R. Hennekam
- 1991
Medicine
American journal of medical genetics
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…
- 25
- R. WinterThe Kennedy-Galton
- 1988
Medicine
Journal of medical genetics
A female infant is described with a lethal short rib syndrome, similar to a form of short rib-polydactyly syndrome but without polydactys, felt to be the same condition as that described by Beemer et al.
- 16
- PDF
- Y. TsaiJ. M. Chang C. B. Huang
- 1992
Medicine
American journal of medical genetics
A case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification is presented and situs inversus totalis, as in this case, has not been described before in any SRPS.
- 23
- F. A. BeemerL. O. Langer J. M. Opitz
- 1983
Medicine
American journal of medical genetics
Two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities, narrow thorax, protuberant abdomen, and short, bowed limbs are described.
- 76
- S. BalcıM. D. ErçalB. ÖnolM. ÇaǧlarA. DoğanN. Doğruel
- 1991
Medicine
Clinical genetics
Two sibs with Beemer type short rib syndrome, one of them diagnosed in utero, are reported. Both patients had previously unreported additional abnormalities such as pyloric stenosis and short bowels.…
- 14
- P. NaumoffL. W. YoungJ. MazerA. Amortegui
- 1977
Medicine
Radiology
Three infants died perinatally of asphyxia due to thoracic narrowing. Their uniform radiographic findings are different from previously described and recognized chondrodysplasias and possibly…
- 78
- M. BronsteinA. ReichlerZ. BorochowitzJ. BejarA. Drugan
- 1994
Medicine
American journal of medical genetics
The skeletal anomalies are similar to those in Verma Naumoff type of short rib polydactyly, but the extraskeletal malformations have never been reported before in this syndrome.
- 11
- M. Martínez‐FríasE. BermejoM. UriosteH. HuertasI. Arroyo
- 1993
Medicine
Journal of medical genetics
We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap the four established forms of lethal SRPS, so that it is difficult to…
- 42
- PDF
- A. E. LinN. DoshiL. FlomBeverly TenenholzK. Filkins
- 1991
Medicine
American journal of medical genetics
The patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders.
- 25
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