Daughter and her mildly affected father with Keipert syndrome

Area of Science:

• Genetics
• Pediatrics
• Dermatology

Background:

• Keipert syndrome is a rare genetic disorder characterized by specific physical anomalies.
• Previous cases have not extensively documented affected females or familial inheritance patterns.

Observation:

• A 10-year-old girl presented with hallmark features of Keipert syndrome, including broad terminal phalanges, sensorineural deafness, unusual facial features, macrocephaly, maxillary hypoplasia, and a hoarse voice.
• Her father exhibited milder symptoms, including broad terminal phalanges, macrocephaly, maxillary hypoplasia, and a hoarse voice.

Findings:

• The affected daughter is the first documented female with Keipert syndrome.
• The father-daughter presentation strongly suggests an autosomal dominant inheritance pattern for Keipert syndrome.

Implications:

• This case expands the known phenotypic spectrum of Keipert syndrome in females.
• Understanding the inheritance pattern aids in genetic counseling and diagnosis for families with suspected Keipert syndrome.