Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)

Motti Haimi; Ruth Gershoni-Baruch

doi:10.1002/ajmg.a.30953

Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)

Motti Haimi, Ruth Gershoni-Baruch

Research output: Contribution to journal › Article › peer-review

Abstract

We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome.

Original language	English
Pages (from-to)	268-271
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	138 A
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.30953
State	Published - 15 Oct 2005
Externally published	Yes

Keywords

Autosomal recessive inheritance
Chorioretinopathy
Developmental delay
Hair anomalies
Hypopituitarism
Retinitis pigmentosa
Short stature
Trichomegaly

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.30953

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title = "Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)",

abstract = "We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome.",

keywords = "Autosomal recessive inheritance, Chorioretinopathy, Developmental delay, Hair anomalies, Hypopituitarism, Retinitis pigmentosa, Short stature, Trichomegaly",

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doi = "10.1002/ajmg.a.30953",

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journal = "American Journal of Medical Genetics, Part A",

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Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction). / Haimi, Motti; Gershoni-Baruch, Ruth.
In: American Journal of Medical Genetics, Part A, Vol. 138 A, No. 3, 15.10.2005, p. 268-271.

Research output: Contribution to journal › Article › peer-review

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T2 - Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)

AU - Haimi, Motti

AU - Gershoni-Baruch, Ruth

PY - 2005/10/15

Y1 - 2005/10/15

N2 - We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome.

AB - We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome.

KW - Autosomal recessive inheritance

KW - Chorioretinopathy

KW - Developmental delay

KW - Hair anomalies

KW - Hypopituitarism

KW - Retinitis pigmentosa

KW - Short stature

KW - Trichomegaly

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JO - American Journal of Medical Genetics, Part A

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Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)

Abstract

Keywords

ASJC Scopus subject areas

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