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21/48. Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome.

    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 polydactyly in this recently defined entity. The clinical, radiological, and pathological findings, especially of the bones, are described. The differential diagnosis of this entity is discussed.
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keywords = short
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22/48. Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.

    We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median cleft lip and alveolar ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts. This patient resembles seven previously reported patients with the Beemer-Langer syndrome, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median cleft lip with or without cleft palate, flat face, and macrocephaly. Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders.
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23/48. 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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24/48. Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.

    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. Dysplasia of pancreatic langerhans cells was present in one sib.
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ranking = 10
keywords = short
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25/48. Laryngeal findings in short rib polydactyly syndrome: case report and embryological correlations.

    Short Rib Polydactyly Syndrome (SRPS) is a group of rare congenital disorders characterized by polydactyly, short limbs, and short ribs. Infants with type I SRPS (Majewski syndrome) may exhibit dysgenesis of the larynx, which is manifested by epiglottic hypoplasia. Photographic documentation of laryngeal findings obtained at autopsy in an affected infant is provided. To our knowledge, such photographic documentation has not been previously published. Normal laryngeal development is reviewed, based on the Carnegie system of staging. The developmental errors leading to SRPS are thought to occur at 33 to 48 days of fetal life (Carnegie stages 15 through 19).
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ranking = 6
keywords = short
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26/48. Prenatal ultrasonic diagnosis of short rib polydactyly syndrome, type I. A case report.

    A case of short rib polydactyly syndrome, type I, was diagnosed in utero with ultrasound. An accurate diagnosis is essential to proper management and genetic counseling.
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ranking = 5
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27/48. Short rib polydactyly syndrome type I: an autopsy approach to diagnosis of chondrodysplasias.

    The autopsy diagnosis of neonates with chondrodysplasias is often difficult due to the rarity of many of these conditions and to a complex classification scheme. Accurate diagnosis is essential for counseling of parents with one or more affected infants. classification is currently based on radiological appearances and gross morphology. Following examination of two siblings with short rib polydactyly syndrome (SRPS) type I, we undertook to analyze the main problems in clinical pathological classification of chondrodysplasias. The problems identified are: variability in the constellations of morphological features that are used for diagnosis; insufficient radiological data being obtained at the time of autopsy; failure to preserve tissue appropriately for the necessary studies and lack of knowledge of the underlying abnormalities in most chondrodysplastic syndromes. It is anticipated that biochemical and molecular genetic abnormalities will eventually be discovered to reduce diagnostic uncertainty in the chondrodysplasias. Presently the diagnostic process is facilitated when frozen tissue is available for studies such as collagen, proteoglycan, and enzyme analysis and mRNA and dna analyses.
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ranking = 1
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28/48. Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.

    Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-polydactyly skeletal dysplasia with orofacial findings almost identical to those of the Mohr syndrome. Phenotypic overlap between the Mohr and the Majewski syndromes has already been reported in the literature, and it has been suggested that the two syndromes may be mild and severe expressions of the same autosomal recessive disorder. Our two cases give further support to this hypothesis.
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ranking = 115865.28793584
keywords = short rib-polydactyly, rib-polydactyly, short
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29/48. 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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ranking = 503975.4165069
keywords = short rib-polydactyly, rib-polydactyly, short
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30/48. short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

    Four cases of lethal short rib-polydactyly syndrome (SRPS) from three non-consanguineous families are described. Radiological features were similar in all four cases and were most consistent with type III SRPS (Verma-Naumoff syndrome), but many differences in external and systemic abnormalities were noted. The considerable overlap of supposedly distinctive features displayed by the three main forms of SRPS is suggestive of a single locus mutation with variable expressivity, particularly for types I and III, possibly related to different mutant alleles and secondary intrauterine modification of the phenotype. All four cases showed anomalous sexual development. In spite of testicular differentiation in all four and a 46, XY karyotype in the two on whom chromosome studies were done, two infants were phenotypic females and two had ambiguous genitalia. A definitive diagnosis of SRPS was made at 26 weeks' gestation in a pregnancy at risk.
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ranking = 1306746.6413467
keywords = short rib-polydactyly syndrome, rib-polydactyly syndrome, short rib-polydactyly, rib-polydactyly, short
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