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Updated: Jun 28, 2026
Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
Published on: July 3, 2020
Sib pair with previously unreported skeletal dysplasia
André Mégarbané1, Rawane Dagher, Imad Melki
1Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon. megarbane@usj.edu.lb
Insights
A rare genetic disorder, possibly a new chondrodysplasia, affected a Lebanese family, causing developmental delay and skeletal abnormalities in siblings. The condition led to respiratory failure in one child, while the other showed some improvement in bone issues.
Area of Science:
- Genetics
- Pediatrics
- Radiology
Background:
- Investigating rare genetic disorders in consanguineous families.
- Understanding skeletal dysplasias and their clinical manifestations.
Observation:
- A Lebanese family presented with a sister and brother exhibiting developmental delay, dysmorphic features, and skeletal abnormalities.
- Neonatal radiographs revealed severe thoracic and limb bone malformations, including platyspondyly and hypoplastic ischia.
- The female sibling died at 9 months due to respiratory insufficiency.
Findings:
- The affected siblings displayed a unique constellation of symptoms, including developmental delay, dysmorphic facial appearance, and distinct skeletal anomalies.
- Radiographic findings indicated severe platyspondyly, bell-shaped thorax, short ribs, and abnormal acetabula and iliac bones.
- While bone abnormalities showed some improvement in the male sibling, axial hypotonia and short stature persisted.
Implications:
- This case suggests a novel form of chondrodysplasia, necessitating further genetic investigation.
- Understanding this condition can aid in early diagnosis and management of similar skeletal dysplasias.
- The findings highlight the importance of detailed clinical and radiological assessment in diagnosing rare genetic skeletal disorders.
Abstract:
We report on a consanguineous Lebanese family in which a sister and brother had developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, and short limbs. Neonatal radiographs disclosed a bell-shaped thorax, short ribs, some with a cupped end, severe platyspondyly, square iliac bones, horizontal acetabula with medial and lateral spurs, hypoplastic ischia, short long bones, slight widening of the distal femoral metaphyses, and absence of epiphyseal ossification of the knees. The girl died at age 9 months as a result of respiratory insufficiency. A clinical and radiological follow-up of the boy showed that the axial hypotonia, minor anomalies, and short stature were still present, whereas the bone abnormalities had improved. Differential diagnosis suggests that this is a new type of chondrodysplasia.
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