A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B

Marco Castori, Francesco Brancati, Rita Mingarelli, Stefan Mundlos, Bruno Dallapiccola

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We report on a 2-year-old girl affected by an isolated form of brachydactyly type B (BDB)-like malformation of the limbs consistent with Cooks syndrome (CS). A literature review was carried out in an attempt to delineate the CS clinical spectrum and separate it from BDB. The two conditions can be differentiated on clinical, radiological, and genetic grounds. In particular, CS shows a characteristic pattern of ungueal and phalangeal anomalies. In the hands, all rays are involved to a similar extent with bulbous tips. The feet are generally more severely affected than the hands. Involvement of the nails appears to be a primary feature and not secondary to phalangeal hypo/aplasia. Also, radial and ulnar rays are similarly affected. The CS clinical spectrum is expanded to include ungueal tumor-like lesions, observed in the present patient.

Original languageEnglish
Pages (from-to)195-199
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number2
DOIs
Publication statusPublished - Jan 15 2007

Fingerprint

Hand
Nails
Foot
Extremities
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
Type B1 Brachydactyly
Neoplasms

Keywords

  • Apical dystrophy
  • BDB
  • Cooks syndrome
  • Dorsoventral patterning
  • Ectrodactyly
  • ROR2

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. / Castori, Marco; Brancati, Francesco; Mingarelli, Rita; Mundlos, Stefan; Dallapiccola, Bruno.

In: American Journal of Medical Genetics, Part A, Vol. 143, No. 2, 15.01.2007, p. 195-199.

Research output: Contribution to journalArticle

@article{e905eb304fc547d08b85b1cb947a2409,
title = "A novel patient with Cooks syndrome supports splitting from {"}classic{"} brachydactyly type B",
abstract = "We report on a 2-year-old girl affected by an isolated form of brachydactyly type B (BDB)-like malformation of the limbs consistent with Cooks syndrome (CS). A literature review was carried out in an attempt to delineate the CS clinical spectrum and separate it from BDB. The two conditions can be differentiated on clinical, radiological, and genetic grounds. In particular, CS shows a characteristic pattern of ungueal and phalangeal anomalies. In the hands, all rays are involved to a similar extent with bulbous tips. The feet are generally more severely affected than the hands. Involvement of the nails appears to be a primary feature and not secondary to phalangeal hypo/aplasia. Also, radial and ulnar rays are similarly affected. The CS clinical spectrum is expanded to include ungueal tumor-like lesions, observed in the present patient.",
keywords = "Apical dystrophy, BDB, Cooks syndrome, Dorsoventral patterning, Ectrodactyly, ROR2",
author = "Marco Castori and Francesco Brancati and Rita Mingarelli and Stefan Mundlos and Bruno Dallapiccola",
year = "2007",
month = "1",
day = "15",
doi = "10.1002/ajmg.a.31433",
language = "English",
volume = "143",
pages = "195--199",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "2",

}

TY - JOUR

T1 - A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B

AU - Castori, Marco

AU - Brancati, Francesco

AU - Mingarelli, Rita

AU - Mundlos, Stefan

AU - Dallapiccola, Bruno

PY - 2007/1/15

Y1 - 2007/1/15

N2 - We report on a 2-year-old girl affected by an isolated form of brachydactyly type B (BDB)-like malformation of the limbs consistent with Cooks syndrome (CS). A literature review was carried out in an attempt to delineate the CS clinical spectrum and separate it from BDB. The two conditions can be differentiated on clinical, radiological, and genetic grounds. In particular, CS shows a characteristic pattern of ungueal and phalangeal anomalies. In the hands, all rays are involved to a similar extent with bulbous tips. The feet are generally more severely affected than the hands. Involvement of the nails appears to be a primary feature and not secondary to phalangeal hypo/aplasia. Also, radial and ulnar rays are similarly affected. The CS clinical spectrum is expanded to include ungueal tumor-like lesions, observed in the present patient.

AB - We report on a 2-year-old girl affected by an isolated form of brachydactyly type B (BDB)-like malformation of the limbs consistent with Cooks syndrome (CS). A literature review was carried out in an attempt to delineate the CS clinical spectrum and separate it from BDB. The two conditions can be differentiated on clinical, radiological, and genetic grounds. In particular, CS shows a characteristic pattern of ungueal and phalangeal anomalies. In the hands, all rays are involved to a similar extent with bulbous tips. The feet are generally more severely affected than the hands. Involvement of the nails appears to be a primary feature and not secondary to phalangeal hypo/aplasia. Also, radial and ulnar rays are similarly affected. The CS clinical spectrum is expanded to include ungueal tumor-like lesions, observed in the present patient.

KW - Apical dystrophy

KW - BDB

KW - Cooks syndrome

KW - Dorsoventral patterning

KW - Ectrodactyly

KW - ROR2

UR - http://www.scopus.com/inward/record.url?scp=33846002797&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33846002797&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.31433

DO - 10.1002/ajmg.a.31433

M3 - Article

C2 - 17163524

AN - SCOPUS:33846002797

VL - 143

SP - 195

EP - 199

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 2

ER -