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Transverse terminal limb defect

MedGen UID:
1053208
•Concept ID:
CN377966
•
Finding
Synonym: Transverse terminal limb reduction
 
HPO: HP:6000818

Definition

A congenital anomaly that appears as an amputation at different levels of the extremity. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment. [from HPO]

Professional guidelines

PubMed

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G
Am J Med Genet A 2020 Jan;182(1):29-37. Epub 2019 Oct 25 doi: 10.1002/ajmg.a.61364. PMID: 31654484

Recent clinical studies

Etiology

Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects.
Shashi V, Rickheim A, Pettenati MJ
Am J Med Genet 2001 Apr 15;100(1):25-9. doi: 10.1002/ajmg.1186. PMID: 11337744

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