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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Changes in the Appendicular Skeleton with Age

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Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Nondisjunction01:21

Nondisjunction

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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Ectrodactyly/split hand feet malformation.

Geetanjali Jindal1, Veena R Parmar, Vipul Kumar Gupta

  • 1Department of Pediatrics, Government Medical College, Sector 32, Chandigarh, India.

Indian Journal of Human Genetics
|November 20, 2010
PubMed
Summary
This summary is machine-generated.

Split-hand/split-foot malformation, a rare limb defect, typically follows autosomal dominant inheritance. This report details a rare case of autosomal recessive inheritance, highlighting antenatal diagnosis, genetic counseling, and treatment strategies.

Keywords:
Autosomal recessivesplit-hand/split-foot malformationsyndactyly

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Split-hand/split-foot malformation (SHFM) is a rare congenital limb malformation characterized by median clefts of the hands and feet.
  • It involves aplasia or hypoplasia of the phalanges, metacarpals, and metatarsals.
  • SHFM commonly presents as an isolated anomaly inherited in an autosomal dominant pattern.

Observation:

  • This study reports a unique case of SHFM exhibiting autosomal recessive inheritance.
  • The case involved detailed antenatal diagnosis, genetic counseling, and management of the malformation.

Findings:

  • Autosomal recessive inheritance is a less common but documented mode for SHFM.
  • Early and accurate antenatal diagnosis is crucial for planning and intervention.
  • Comprehensive genetic counseling is essential for affected families.

Implications:

  • This case expands the understanding of SHFM inheritance patterns.
  • It underscores the importance of considering recessive inheritance in SHFM diagnosis.
  • Improved diagnostic and counseling approaches can enhance patient outcomes and family support.