Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome

A. Raas-Rothschild; R. M. Goodman; S. Meyer; M. Bat-Miriam Katznelson; S. T. Winter; E. Gross; M. Tamarkin; T. Ben-Ami; L. Nebel; S. Maschiach

doi:10.1136/jmg.25.10.687

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome

A. Raas-Rothschild, R. M. Goodman, S. Meyer, M. Bat-Miriam Katznelson, S. T. Winter, E. Gross, M. Tamarkin, T. Ben-Ami, L. Nebel, S. Maschiach

Research output: Contribution to journal › Review article › peer-review

Abstract

A second family with the autosomal recessive disorder now referred to as the Al-Awadi limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.

Original language	English
Pages (from-to)	687-697
Number of pages	11
Journal	Journal of Medical Genetics
Volume	25
Issue number	10
DOIs	https://doi.org/10.1136/jmg.25.10.687
State	Published - 1988
Externally published	Yes

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title = "Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome",

abstract = "A second family with the autosomal recessive disorder now referred to as the Al-Awadi limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.",

author = "A. Raas-Rothschild and Goodman, {R. M.} and S. Meyer and {Bat-Miriam Katznelson}, M. and Winter, {S. T.} and E. Gross and M. Tamarkin and T. Ben-Ami and L. Nebel and S. Maschiach",

year = "1988",

doi = "10.1136/jmg.25.10.687",

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AU - Raas-Rothschild, A.

AU - Goodman, R. M.

AU - Meyer, S.

AU - Bat-Miriam Katznelson, M.

AU - Winter, S. T.

AU - Gross, E.

AU - Tamarkin, M.

AU - Ben-Ami, T.

AU - Nebel, L.

AU - Maschiach, S.

PY - 1988

Y1 - 1988

N2 - A second family with the autosomal recessive disorder now referred to as the Al-Awadi limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.

AB - A second family with the autosomal recessive disorder now referred to as the Al-Awadi limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.

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JF - Journal of Medical Genetics

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ER -

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome

Abstract

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