Terminal Transverse Defects of Arm

Last update 01 Nov 2024

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Synonyms

TERMINAL TRANSVERSE DEFECTS OF ARM, Terminal Transverse Defects of Arm, 手臂末端横向缺损

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100 Clinical Results associated with Terminal Transverse Defects of Arm

100 Translational Medicine associated with Terminal Transverse Defects of Arm

0 Patents (Medical) associated with Terminal Transverse Defects of Arm

Literatures (Medical) associated with Terminal Transverse Defects of Arm

01 Jun 2024·Journal of American Association for Pediatric Ophthalmology and Strabismus

Adams-Oliver syndrome associated with refractory glaucoma

Article

Author: Chaudhary, Sameer ; Puthuran, George Varghese ; R, Rajabharani ; Sr, Krishnadas ; Pillai, Manju R ; Pabolu, Chinmayee

Adams-Oliver syndrome (AOS) is a rare inherited disorder characterized by aplasia cutis congenita, cutis marmorata telangiectatica congenita, and terminal limb defects. Ocular associations have been rarely reported. We report a 6-month-old boy with AOS associated with refractory glaucoma, megalocornea, and anterior polar cataract. To our knowledge, this is the first case of glaucoma to be reported in association with AOS.

01 Jan 2024·Journal of Pediatric Orthopaedics B

Difference between affected and unaffected sides of forearm bone length in children with congenital terminal transverse deficiencies at the level of carpal bone

Article

Author: Haga, Nobuhiko ; Fujiwara, Sayaka ; Nishizaka, Chika ; Mano, Hiroshi

The forearm of the affected sideis often shorter than that of the unaffected side in children with congenital terminal transverse deficiencies at the level of proximal or distal carpals. The aim of this study is to clarify the characteristics of forearm bone length in those children, especially to quantify the difference in forearm bone length between affected and unaffected sides. The subjects were children with carpal partial transverse deficiencies. The lengths of the radius and the ulna were measured in the radiographs. The lengths of affected and unaffected sides (A/U) were compared in order to quantify the discrepancy. The A/U ratio was defined as the length of the affected side divided by that of the unaffected side. The A/U ratios ranged from 77.1 to 99.0% in the radii and from 74.1 to 99.6% in the ulnae. In both the radius and ulna, the A/U ratios were significantly lower than the left/right ratios of normal adults. Additionally, the A/U ratios of the ulna were significantly lower than the A/U ratios of the radius. The forearm bones of affected side are significantly shorter than those of unaffected side. Although the cause remains unclear, it is possible that not only congenital factors but also acquired factors such as infrequent use of the affected upper limb are involved. A future longitudinal study is necessary to investigate whether length discrepancies can be reduced by using prostheses to increase the frequency of use on the affected limb.

01 Jun 2023·Molecular biology reports

A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome

Article

Author: Campos-Domínguez, Minia ; Nieto-Benito, Lula Maria ; Suárez-Fernández, Ricardo

Adams-Oliver syndrome (AOS) (#614,219) is a multiple malformation disorder characterized by the presence of aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD).We describe a confirmed case of AOS with a novel pathogenic variation in Dedicator Of Cytokinesis 6 (DOCK6) gene, with neurol. abnormalities, characterized by the presence of a multiple malformation entity with extensive cardiol. and neurol. abnormalities.In AOS, genotype-phenotype correlations have been described.DOCK6 mutations appear to be related with congenital cardiac and central nervous system malformations associated with intellectual disability, as illustrated in the present case.

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Terminal Transverse Defects of Arm

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