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Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes
M Y Dincsoy1, M A Salih, N al-Jurayyan
1Department of Pediatrics, King Khalid University Hospital, Riyadh, Saudi Arabia.
Insights
This study describes a potential new autosomal recessive syndrome in siblings with midline defects, short limbs, and ambiguous genitalia. A unique feature is the bilateral radiolucent tibial notch, distinguishing it from similar known syndromes.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Consanguineous parentage increases the risk of autosomal recessive genetic disorders.
- Midline defects and limb anomalies can indicate complex genetic syndromes.
- Distinguishing novel syndromes from known conditions like hydrolethalus and pseudotrisomy 13 is crucial for diagnosis.
Observation:
- Two siblings presented with a constellation of midline defects including cleft lip/palate, hypotelorism, and corpus callosum dysgenesis.
- Additional anomalies included short limbs, ambiguous genitalia, digital anomalies, and hypopituitarism.
- A previously undescribed bilateral radiolucent tibial notch was observed in both patients.
Findings:
- The observed phenotype shares features with hydrolethalus and pseudotrisomy 13 syndromes but lacks polydactyly.
- The unique bilateral radiolucent tibial notch is not a recognized feature of these related syndromes.
- The pattern of inheritance and unique features suggest a novel autosomal recessive syndrome.
Implications:
- This case series may represent a new distinct genetic syndrome with a specific pattern of congenital anomalies.
- Accurate diagnosis is essential for genetic counseling and understanding prognosis for affected families.
- Further research, including genetic sequencing, is needed to identify the causative gene(s) for this syndrome.
Abstract:
We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome.