Heredity and dysmorphic syndromes in congenital limb deficiencies

Isolated limb deficiencies are usually sporadic occurrences. However, if they are associated with other abnormalities or a family history, the risk to future pregnancies may be as high as 50%. A thorough history, examination and investigation of the baby as well as the parents is essential before assessing this recurrence risk. The syndromes associated with limb deficiencies are presented.

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EARLY MANAGEMENT OF CONGENITAL LIMB DEFICIENCIES

The Medical Journal of Australia ◽

10.5694/j.1326-5377.1979.tb119353.x ◽

1979 ◽

Vol 1 (11) ◽

pp. 523-523

Author(s):

W. G. Cole

Keyword(s):

Early Management ◽

Congenital Limb ◽

Limb Deficiencies

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How Children with Congenital Limb Deficiencies Visually Attend to Their Limbs and Prostheses: Eye Tracking of Displayed Still Images and Visuospatial Body Knowledge

Developmental Neurorehabilitation ◽

10.1080/17518423.2021.1901151 ◽

2021 ◽

pp. 1-8

Author(s):

Hiroshi Mano ◽

Sayaka Fujiwara ◽

Nobuhiko Haga

Keyword(s):

Eye Tracking ◽

Still Images ◽

Congenital Limb ◽

Limb Deficiencies ◽

Body Knowledge

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A study of 200 cases of congenital limb deficiencies

Prosthetics and Orthotics International ◽

10.3109/03093649409164402 ◽

1994 ◽

Vol 18 (3) ◽

pp. 174-179 ◽

Cited By ~ 6

Author(s):

S. K. Jain

Keyword(s):

Surgical Correction ◽

Lower Limbs ◽

Upper Limbs ◽

Artificial Limb ◽

Prosthetic Fitting ◽

Congenital Limb ◽

Partial Deficiency ◽

Limb Deficiencies ◽

Limb Deficiency ◽

Congenital Limb Deficiency

An analysis of 200 patients with congenital limb deficiency who attended the Artificial Limb Centre, Pune from January 1984 to April 1990 is presented. This group is representative of the congenital limb deficient population of the country. The commonest deficiencies were transverse phalangeal total/partial deficiency and transverse forearm partial deficiency (below elbow) in upper limbs, whereas transverse metatarsal total/partial deficiency and transverse leg partial deficiency (below knee) were commonest in lower limbs. Transverse forearm partial deficiency was more common in female, while transverse leg partial deficiency was more common in male children, 16 patients did not require any treatment, 6 needed only surgical correction. Some 30 patients needed surgery before prosthetic fitting, while 148 patients required only prostheses. Some 68% of patients achieved satisfactory to excellent results; 18% showed poor rehabilitation. No definitive cause for the deformities could be isolated; however, many parents believed that possible exposure to the eclipse during pregnancy was the cause of the deficiency. The eldest child was most affected.

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Conotruncal Malformation Complex: Examples of Possible Monogenic Inheritance

PEDIATRICS ◽

10.1542/peds.63.6.890 ◽

1979 ◽

Vol 63 (6) ◽

pp. 890-893

Author(s):

Marvin E. Miller ◽

David W. Smith

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Family History ◽

Congenital Heart ◽

Recurrence Risk ◽

Strong Family History ◽

Cardiac Defects ◽

Monogenic Inheritance ◽

Congenital Cardiac Defects ◽

Malformation Complex

Two families are described in which there is possible monogenic inheritance of congenital cardiac defects within the spectrum of faulty conotruncal septation (CTS). Evidence for a genetic control of conotruncal septation arises from genetic and embryologic studies of similar defects in the Keeshond dog model, the excess of sibship pairs with conotruncal septation defects in sibship pairs with congenital heart disease, and previously reported pedigrees of families with multiple affected individuals with conotruncal septation defects. It is suggested that in the small number of cases of congenital cardiac defects in which there is a strong family history for CTS defects, a higher recurrence risk should be considered rather than the usual polygenic recurrence risk of 3% that is usually given in such situations.

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