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Case report: hypoglossia-hypodactylia syndrome

K Mishima¹, T Sugahara, Y Mori

¹Second Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Osaka University, Japan.

Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery

|February 1, 1996

Summary

This case study details hypoglossia-hypodactylia syndrome in an infant, presenting with micrognathia and limb abnormalities. The findings highlight the complex congenital malformations associated with this rare genetic disorder.

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Area of Science:

Medical Genetics
Developmental Biology
Clinical Case Reports

Background:

Hypoglossia-hypodactylia syndrome is a rare congenital disorder characterized by underdevelopment of the tongue and limbs.
It is often associated with other craniofacial and limb anomalies, presenting diagnostic and management challenges.

Observation:

A neonate presented with micrognathia, gingival defects, and tongue hypoplasia.
The infant exhibited a defect in the right arm below the elbow.
The right foot showed syndactyly of the great, second, and third toes, with osseous fusion of the first and second metatarsi and proximal phalanges.

Findings:

The left foot displayed brachydactyly of the great and fifth toes, syndactyly of the second, third, and fourth toes.
Hypoplasia of the first and second metatarsi and a defect in the first phalanx were noted in the left foot.

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This case illustrates a severe presentation of hypoglossia-hypodactylia syndrome with extensive limb malformations.

Implications:

Understanding the spectrum of anomalies in hypoglossia-hypodactylia syndrome is crucial for accurate diagnosis and genetic counseling.
Early identification and multidisciplinary management are essential for optimizing outcomes in affected individuals.
Further research into the genetic basis and developmental pathways of this syndrome is warranted.