Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Bernstein, R; Isdale, J; Pinto, Mauricio; Zaaijman, J Du Toit; Jenkins, Trefor

doi:10.1136/jmg.22.1.46

Cited by 61 publications

(49 citation statements)

References 22 publications

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“…La prevalencia global de displasias esqueléticas al nacer es de 2,4 x 10 000 (2,4) . Tampoco se ha observado predominio de un sexo sobre otro, pero sí ambigüedad sexual en una proporción importante de casos (5,6) . El caso que motiva el presente reporte fue de un feto de sexo masculino, pero con micropene de 2,5 cm y testículos descendidos.…”

Section: Discussionunclassified

Síndrome de costillas cortas y polidactilia: displasia esquelética fetal incompatible con la vida

et al. 2011

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ResumenEl síndrome costillas cortas polidactilia es una categoría descriptiva para un grupo de displasias esqueléticas incompatibles con la vida, caracterizadas por tórax estrecho, costillas extremadamente pequeñas, micromelia, polidactilia y anomalías viscerales. Las 4 variantes establecidas son SRPS I (tipo Saldino-Noonan), SRPS II (tipo Majewski), SRPS III (tipo Verma-Naumoff) y SRPS IV (tipo Beemer-Langer). Se piensa que todas las variantes son heredadas en forma autosómica recesiva. Debido a la frecuente superposición fenotípica, existe controversia si las variantes son debidas a expresión variable o a heterogeneidad genética. Presentamos un caso de un feto masculino, con signos ecográficos característicos de displasia esquelética, tales como micromelia, tórax estrecho en forma de campana, hipertelorismo, implantación baja de las orejas y polidactilia, que nació de parto vaginal y falleció a los 2 días de vida, producto de insuficiencia respiratoria, la cual presentó desde el nacimiento. Palabras clave: Síndrome de Costilla pequeña y polidactilia; displasias óseas; ultrasonografía. AbstractShort rib-polydactyly syndrome is a descriptive category for a group of lethal skeletal dysplasias characterized by hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities. The 4 established variants are SRPS I (Saldino-Noonan type), SRPS II (Majewski type; 263520), SRPS III (VermaNaumoff type; 263510), and SRPS IV (Beemer-Langer type; 269860). All variants are thought to be inherited in autosomal recessive pattern. Because of the frequent phenotype overlap there is controversy as to whether the variants are due to variable expression or to genetic heterogeneity. We present a case of a male fetus, with typical ultrasound markers of skeletal dysplasia such as micromelia, bell shaped narrow thorax, hypertelorism, low implantation ears and polidactily who was born by vaginal delivery and died two days later due to respiratory insufficiency present since birth.

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Section: Discussionunclassified

Síndrome de costillas cortas y polidactilia: displasia esquelética fetal incompatible con la vida

et al. 2011

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“…Type 1 is distinguished from type 3 by more genitourinary, cardiovascular and gastrointestinal anomalies, female predominance, pointed femurs on both ends, fl attened acetabular roofs, hypoplastic iliac bones, weak corticomedullary demarcation border and absent fi bulae [2,8,15,16] . Variants of type 3 SRPS with normal or hypoplastic fi bulae have been presented, but type 3 with absence of fi bulae which is typical for type 1 has not been presented.…”

Section: Discussionmentioning

confidence: 99%

“…The frequency is 1 in 200,000 live births or less. In the current literature, different variants of SRPS have been identifi ed with overlapping ultrasonographic, pathological and radiological features [7][8][9][10] . Variants of type 3 SRPS with hypoplastic fi bulae have been presented, but absence of fi bulae has not yet been reported.…”

Section: Introductionmentioning

confidence: 99%

Short Rib Polydactyly Syndrome Type 3 with Absence of Fibulae (Verma-Naumoff Syndrome)

Kumru

Aka²,

Köse³

et al. 2005

Fetal Diagn Ther

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Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with different prenatal sonographic and postnatal clinical, histological and radiologic findings. SRPS type 1 (Saldino-Noonan) and type 3 (Verma-Naumoff) are very similar and frequently get mixed. In this report, we present a case of SRPS with hydrops, thoracic hypoplasia, short limbs and postaxial polydactyly in a 27-week fetus. The visceral findings in the fetus including the central nervous system were normal. The karyotype was 46XY. The prenatal diagnosis was thought to be type 1 because of the absence of fibulae at ultrasonography. However, postmortem autopsy, histologic, and radiologic findings were reviewed and the diagnosis was type 3 SRPS because of absence of visceral anomalies, presence of fan-shaped iliac bones and short tubular bones with metaphyseal widening. We concluded that detailed ultrasonography performed in the prenatal period is very important in the diagnosis and differential diagnosis of SRPS.

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“…[4][5][6][7][8][9][10][11][12][13] The sonographic appearance of all three includes short ribs, narrow thorax, hypoplastic lungs, ambiguous genitalia, and polydactyly. 4-t3 Type I SRPS (Saldino-Noonan's syndrome) was first described in 1972.…”

Section: Discussionmentioning

confidence: 99%

Prenatal sonographic diagnosis of short rib-polydactyly syndrome type II, Majewski type

Benacerraf

1993

Journal of Ultrasound in Medicine

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Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Cited by 61 publications

References 22 publications

Síndrome de costillas cortas y polidactilia: displasia esquelética fetal incompatible con la vida

Síndrome de costillas cortas y polidactilia: displasia esquelética fetal incompatible con la vida

Short Rib Polydactyly Syndrome Type 3 with Absence of Fibulae (Verma-Naumoff Syndrome)

Prenatal sonographic diagnosis of short rib-polydactyly syndrome type II, Majewski type

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