Familial aplasia cutis congenita and coarctation of the aorta

B. Dallapiccola; A. Giannotti; B. Marino; C. Digilio; G. Obregon

doi:10.1002/ajmg.1320430423

Familial aplasia cutis congenita and coarctation of the aorta

B. Dallapiccola, A. Giannotti, B. Marino, C. Digilio, G. Obregon

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article

Abstract

We report on the association of aplasia cutis congenita (ACC) in the midline of the scalp vertex and coarctation of the aorta (CA) in mother and son. The acronym of ACCCA syndrome is proposed for this condition. Autosomal dominant inheritance is most commonly implicated in the familial cases of ACC. The familial aggregation of CA is attributed, in general, to a multi- factorial causation, with a few reported families suggesting autosomal dominant inheritance. The ACCCA syndrome could be due to a Mendelian mutation.

Original language	English
Pages (from-to)	762-763
Number of pages	2
Journal	American Journal of Medical Genetics
Volume	43
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320430423
Publication status	Published - 1992

Fingerprint

Keywords

ACCCA syndrome
aplasia cutis congenita
autosomal dominant inheritance
coarctation of the aorta

ASJC Scopus subject areas

Genetics(clinical)

Cite this

Dallapiccola, B., Giannotti, A., Marino, B., Digilio, C., & Obregon, G. (1992). Familial aplasia cutis congenita and coarctation of the aorta. American Journal of Medical Genetics, 43(4), 762-763. https://doi.org/10.1002/ajmg.1320430423

@article{86aafe440e1d4044b076668d2e1af534,

title = "Familial aplasia cutis congenita and coarctation of the aorta",

abstract = "We report on the association of aplasia cutis congenita (ACC) in the midline of the scalp vertex and coarctation of the aorta (CA) in mother and son. The acronym of ACCCA syndrome is proposed for this condition. Autosomal dominant inheritance is most commonly implicated in the familial cases of ACC. The familial aggregation of CA is attributed, in general, to a multi- factorial causation, with a few reported families suggesting autosomal dominant inheritance. The ACCCA syndrome could be due to a Mendelian mutation.",

keywords = "ACCCA syndrome, aplasia cutis congenita, autosomal dominant inheritance, coarctation of the aorta",

author = "B. Dallapiccola and A. Giannotti and B. Marino and C. Digilio and G. Obregon",

year = "1992",

doi = "10.1002/ajmg.1320430423",

language = "English",

volume = "43",

pages = "762--763",

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

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "4",

}

TY - JOUR

T1 - Familial aplasia cutis congenita and coarctation of the aorta

AU - Dallapiccola, B.

AU - Giannotti, A.

AU - Marino, B.

AU - Digilio, C.

AU - Obregon, G.

PY - 1992

Y1 - 1992

N2 - We report on the association of aplasia cutis congenita (ACC) in the midline of the scalp vertex and coarctation of the aorta (CA) in mother and son. The acronym of ACCCA syndrome is proposed for this condition. Autosomal dominant inheritance is most commonly implicated in the familial cases of ACC. The familial aggregation of CA is attributed, in general, to a multi- factorial causation, with a few reported families suggesting autosomal dominant inheritance. The ACCCA syndrome could be due to a Mendelian mutation.

AB - We report on the association of aplasia cutis congenita (ACC) in the midline of the scalp vertex and coarctation of the aorta (CA) in mother and son. The acronym of ACCCA syndrome is proposed for this condition. Autosomal dominant inheritance is most commonly implicated in the familial cases of ACC. The familial aggregation of CA is attributed, in general, to a multi- factorial causation, with a few reported families suggesting autosomal dominant inheritance. The ACCCA syndrome could be due to a Mendelian mutation.

KW - ACCCA syndrome

KW - aplasia cutis congenita

KW - autosomal dominant inheritance

KW - coarctation of the aorta

UR - http://www.scopus.com/inward/record.url?scp=0026652431&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026652431&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320430423

DO - 10.1002/ajmg.1320430423

M3 - Article

C2 - 1621771

AN - SCOPUS:0026652431

VL - 43

SP - 762

EP - 763

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -

Access to Document

10.1002/ajmg.1320430423