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Keutel syndrome: a report of four cases
H E Khosroshahi1, O Uluoğlu, R Olguntürk
1Division of Paediatric Cardiology, Social Security Children's Hospital, Dişkapi, Ankara, Turkey.
Insights
Keutel syndrome, a rare genetic disorder, is characterized by abnormal cartilage ossification and pulmonary stenosis. This study confirms it as a distinct autosomal recessive condition, highlighting key clinical features.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Keutel syndrome is a rare genetic disorder with poorly understood inheritance patterns.
- Previous reports suggest autosomal recessive inheritance, but further confirmation is needed.
Observation:
- Four new cases of Keutel syndrome are presented with detailed clinical manifestations.
- Key features include abnormal cartilage ossification, peripheral pulmonary stenosis (PPS), brachytelephalangism, subnormal IQ, recurrent respiratory infections, otitis media, and hearing loss.
- Affected children presented with typical facial features and had consanguineous parents.
Findings:
- The clinical observations in these four cases align with the diagnostic criteria for Keutel syndrome.
- The inheritance pattern observed within the families, with affected offspring and unaffected parents (except for the mother with pulmonary stenosis), strongly supports an autosomal recessive mode of inheritance.
- This study confirms Keutel syndrome as a distinct autosomal recessive syndrome.
Implications:
- These findings solidify the understanding of Keutel syndrome's genetic basis, aiding in diagnosis and genetic counseling.
- Recognition of this distinct autosomal recessive syndrome is crucial for accurate diagnosis and management of affected individuals.
- Further research into the specific genes and molecular mechanisms underlying Keutel syndrome is warranted.
Abstract:
We report four new cases of Keutel syndrome. Clinical manifestation included abnormal cartilage ossification, multiple peripheral pulmonary stenosis (PPS), brachytelephalangism, subnormal IQ, repeated respiratory infections, otitis media and hearing loss. All four children have a typical facial appearance and are of consanguineous parents. Father and the fifth offspring exhibit a normal phenotype; the mother has pulmonary stenosis. This observation confirms Keutel syndrome as a distinct autosomal recessive syndrome.