Dr.Jerin.K.John, Dr.C.Jayakumar
A 4 year child, a full-term ba of a non consanguineous patents was born via vaginal delivery with a narrow thorax, post-axial polydactyly in both hands and the left foot, gum hypertrophy with multiple frenulae, and short limbs with rhizomelic shortening. Anterior fontanelle (AF) was at level. The neonatal period was uneventful until he developed respiratory distress, leading to NICU admission. Developmentally he can stand with support, have an immature pincer grasp, and engaging in parallel play. He was up-to-date with both National Immunization Schedule (NIS) and non-NIS vaccines.
He had multiple hospital admissions due to aspiration pneumonia.
Diagnostic evaluations included video fluoroscopy, revealing oropharyngeoesophageal dysphagia.
An echocardiogram (ECHO) showed a structurally normal heart
Brainstem Evoked Response Audiometry (BERA) was normal.
Altered liver functions were noted, with a normal HIDA scan.
Liver biopsy indicated congenital hepatic fibrosis.
He is totally blind
Parents were found to be carriers for IFT52 mutation.
Maternal antenatal history was normal with no significant complications or exposures, and routine screenings and ultrasounds were normal. The family environment was stable with no known environmental toxins or significant psychosocial stressors.
Disscusion
Jeune syndrome is a genetically heterogeneous condition inherited in an autosomal recessive pattern. It is characterized several key manifestations:
• Classic Features: Includes dwarfism, short ribs, short limbs, polydactyly of hands and feet, a small bell-shaped thorax, short iliac bones, and retinal degeneration.
• Genetics: The most commonly affected genes are IFT80 and DYNC2H1. About 50% of cases involve mutations in these genes. The present case highlights a rare compound heterozygous mutation in the DYNC2H1 gene.
• Diagnosis: Diagnosed through clinical and molecular assessments. Radiographic findings are crucial, including measurements of femur length (FL), thoracic circumference (TC), rib cage diameter, and abdominal circumference (AC). These measurements help diagnose abnormalities such as mesomelic, rhizomelic, and micromelic dysplasias.
• Antenatal Features: Commonly associated with oligoamnios and renal anomalies. Ultrasound findings may include polyhydramnios and absent or feeble respiratory movements.
• Prognosis: Lung hypoplasia due to restricted thoracic cage leads to alveolar hypoventilation, with 60-70% of patients dying from respiratory failure in infancy.
• Differential Diagnosis: Includes conditions like achondrogenesis, achondroplasia, osteogenesis imperfecta, thanatophoric dwarfism, and hypophosphatasia.
• Management: Primarily supportive, including ventilation. In some cases, bilateral thoracic expansion surgery has shown benefit.