Heart-hand syndrome. III. A new syndrome in three generations

Area of Science:

• Medical Genetics
• Skeletal Dysplasias
• Cardiology

Background:

• Brachydactyly, characterized by shortened fingers and toes, can be associated with various genetic syndromes.
• Intraventricular conduction defects and sick sinus syndrome are cardiac abnormalities that can occur in conjunction with skeletal anomalies.

Purpose of the Study:

• To describe a novel brachydactyly syndrome observed in a three-generation family.
• To investigate the inheritance pattern and associated clinical manifestations of this familial syndrome.

Main Methods:

• Clinical examination of affected family members across three generations.
• Detailed phenotyping of brachydactyly, including specific phalangeal involvement and rare variants.
• Assessment of cardiac function, including electrocardiography to identify conduction defects.

Main Results:

• A distinct form of brachydactyly primarily affecting the middle phalanges, with more severe involvement of the index and fifth fingers.
• A rare variant of brachydactyly featuring an ossicle on the proximal phalanx of the index fingers, causing shortening and ulnar deviation.
• Intraventricular conduction defects observed in three family members and sick sinus syndrome in the proband.
• Autosomal dominant inheritance pattern suggested for the observed syndrome.

Conclusions:

• The identified brachydactyly, coupled with cardiac conduction abnormalities, represents a distinct familial syndrome.
• The findings support an autosomal dominant mode of inheritance for this newly described skeletal and cardiac condition.