Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome

Kevin J. Renfree, Paul C. Dell

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Adams-Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse limb deficiencies and scalp defects (aplasia cutis congenita). Broad phenotypic variability exists in this condition. In its more severe forms, Adams-Oliver syndrome can involve the cardiovascular system, central nervous system, gastrointestinal tract, and genitourinary system and should require prompt evaluation by appropriate subspecialists. Extremity involvement is typically bilateral and asymmetrical, with lower extremities involved more than upper extremities. Brachydactyly is the most common limb defect, and severity ranges from hypoplastic nails to complete absence of the distal limb. The syndrome has been described as resulting from autosomal dominant and recessive modes of inheritance, but most cases are sporadic. No gene has been identified. Although the exact pathogenic mechanism is unknown, a common hypothesis is that a vascular disturbance occurs in watershed areas, such as cranial vertex and limbs, during fetal development.

Original languageEnglish (US)
JournalJournal of Hand Surgery
DOIs
StateAccepted/In press - Mar 18 2016

Fingerprint

Extremities
Brachydactyly
Urogenital System
Ectodermal Dysplasia
Fetal Development
Cardiovascular System
Nails
Scalp
Upper Extremity
Blood Vessels
Gastrointestinal Tract
Lower Extremity
Central Nervous System
Adams Oliver syndrome
Genes

Keywords

  • Adams-Oliver syndrome
  • Brachydactyly
  • Cutis aplasia

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Surgery

Cite this

Distal Limb Defects and Aplasia Cutis : Adams-Oliver Syndrome. / Renfree, Kevin J.; Dell, Paul C.

In: Journal of Hand Surgery, 18.03.2016.

Research output: Contribution to journalArticle

@article{210643d77f23439cb949a36b61884e0f,
title = "Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome",
abstract = "Adams-Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse limb deficiencies and scalp defects (aplasia cutis congenita). Broad phenotypic variability exists in this condition. In its more severe forms, Adams-Oliver syndrome can involve the cardiovascular system, central nervous system, gastrointestinal tract, and genitourinary system and should require prompt evaluation by appropriate subspecialists. Extremity involvement is typically bilateral and asymmetrical, with lower extremities involved more than upper extremities. Brachydactyly is the most common limb defect, and severity ranges from hypoplastic nails to complete absence of the distal limb. The syndrome has been described as resulting from autosomal dominant and recessive modes of inheritance, but most cases are sporadic. No gene has been identified. Although the exact pathogenic mechanism is unknown, a common hypothesis is that a vascular disturbance occurs in watershed areas, such as cranial vertex and limbs, during fetal development.",
keywords = "Adams-Oliver syndrome, Brachydactyly, Cutis aplasia",
author = "Renfree, {Kevin J.} and Dell, {Paul C.}",
year = "2016",
month = "3",
day = "18",
doi = "10.1016/j.jhsa.2016.04.014",
language = "English (US)",
journal = "Journal of Hand Surgery",
issn = "0266-7681",
publisher = "W.B. Saunders Ltd",

}

TY - JOUR

T1 - Distal Limb Defects and Aplasia Cutis

T2 - Adams-Oliver Syndrome

AU - Renfree, Kevin J.

AU - Dell, Paul C.

PY - 2016/3/18

Y1 - 2016/3/18

N2 - Adams-Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse limb deficiencies and scalp defects (aplasia cutis congenita). Broad phenotypic variability exists in this condition. In its more severe forms, Adams-Oliver syndrome can involve the cardiovascular system, central nervous system, gastrointestinal tract, and genitourinary system and should require prompt evaluation by appropriate subspecialists. Extremity involvement is typically bilateral and asymmetrical, with lower extremities involved more than upper extremities. Brachydactyly is the most common limb defect, and severity ranges from hypoplastic nails to complete absence of the distal limb. The syndrome has been described as resulting from autosomal dominant and recessive modes of inheritance, but most cases are sporadic. No gene has been identified. Although the exact pathogenic mechanism is unknown, a common hypothesis is that a vascular disturbance occurs in watershed areas, such as cranial vertex and limbs, during fetal development.

AB - Adams-Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse limb deficiencies and scalp defects (aplasia cutis congenita). Broad phenotypic variability exists in this condition. In its more severe forms, Adams-Oliver syndrome can involve the cardiovascular system, central nervous system, gastrointestinal tract, and genitourinary system and should require prompt evaluation by appropriate subspecialists. Extremity involvement is typically bilateral and asymmetrical, with lower extremities involved more than upper extremities. Brachydactyly is the most common limb defect, and severity ranges from hypoplastic nails to complete absence of the distal limb. The syndrome has been described as resulting from autosomal dominant and recessive modes of inheritance, but most cases are sporadic. No gene has been identified. Although the exact pathogenic mechanism is unknown, a common hypothesis is that a vascular disturbance occurs in watershed areas, such as cranial vertex and limbs, during fetal development.

KW - Adams-Oliver syndrome

KW - Brachydactyly

KW - Cutis aplasia

UR - http://www.scopus.com/inward/record.url?scp=84969988613&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84969988613&partnerID=8YFLogxK

U2 - 10.1016/j.jhsa.2016.04.014

DO - 10.1016/j.jhsa.2016.04.014

M3 - Article

C2 - 27178874

AN - SCOPUS:84969988613

JO - Journal of Hand Surgery

JF - Journal of Hand Surgery

SN - 0266-7681

ER -