Brief clinical report: New case of Bartsocas-Papas syndrome surviving at 20 months

A. Giannotti; M. C. Digilio; L. Standoli; M. Zama; B. Dallapiccola

Brief clinical report: New case of Bartsocas-Papas syndrome surviving at 20 months

A. Giannotti, M. C. Digilio, L. Standoli, M. Zama, B. Dallapiccola

Ospedale Pediatrico Bambino Gesu

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

Abstract

We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.

Original language	English
Pages (from-to)	733-735
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	42
Issue number	5
Publication status	Published - 1992

Keywords

ankyloblepharon
autosomal recessive inheritance
facial clefts
popliteal pterygium syndrome

ASJC Scopus subject areas

Genetics(clinical)
Neuroscience(all)
Neuropsychology and Physiological Psychology

Cite this

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abstract = "We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.",

keywords = "ankyloblepharon, autosomal recessive inheritance, facial clefts, popliteal pterygium syndrome",

author = "A. Giannotti and Digilio, {M. C.} and L. Standoli and M. Zama and B. Dallapiccola",

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AU - Standoli, L.

AU - Zama, M.

AU - Dallapiccola, B.

PY - 1992

Y1 - 1992

N2 - We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.

AB - We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.

KW - ankyloblepharon

KW - autosomal recessive inheritance

KW - facial clefts

KW - popliteal pterygium syndrome

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Brief clinical report: New case of Bartsocas-Papas syndrome surviving at 20 months

Abstract

Keywords

ASJC Scopus subject areas

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