8 Asphyxiating Thoracic Dysplasia
Asphyxiating Thoracic Dysplasia 597
ATD, asphyxiating thoracic dystrophy of the newborn, Jeune syndrome
Bell-shaped thorax, short limbs, abnormal pelvis, chronic nephritis
Frequency: 1 in 130,000 live births.
Genetics
Autosomal recessive (OMIM 208500), possibly hetero- geneous with one locus mapping to chromosome 15q
Clinical Features
• Usually fatal neonatal asphyxia
• Normocephaly
• Long, narrow rib cage, hypoplastic lung, respirato- ry distress, lateral displacement of nipples
• Short limbs with occasional polydactyly, mildly dystrophic nails
• Protruding abdomen, intestinal malabsorption, cystic and fibrotic liver and pancreas
• Chronic nephritis, renal cystic lesions Differential Diagnosis
• Ellis-van Creveld syndrome
• Short rib-polydactyly syndromes
Radiographic Features Chest
• Small, bell-shaped thorax
• Handlebar clavicles
• Short ribs with cupped or bulbous ends
• Horizontally oriented ribs
Pelvis (Abnormalities Normalize Over Time)
• Small pelvis
• Short, flared iliac bones
• Trident appearance of acetabular margins, with spurs extending inferiorly from the medial and lateral margins of the acetabula
• Narrow sciatic notches
• Premature ossification of the proximal femoral epiphyses
Extremities
• Short limbs with irregular metaphyses, especially proximal metaphyses of femurs, becoming more evident with time
• Cone-shaped epiphyses of hands
• Short middle and distal phalanges on hands
• Dysharmonic bone ossification
• Polydactyly (not mandatory) of fingers and toes
A
Fig. 8.1. aPatient 1, age 2 weeks. b Patient 2, age 15 months.
cPatient 3, age 18 months. The ribs are short and horizontally oriented, with cupped and bulbous ends. The thorax is narrow and elongated. Shortening of the ribs and small thorax are fea-
tures with variable expression. The clavicles show a handlebar configuration. (Courtesy of Dr. S. Fasanelli, Ospedale Bambino Gesù, Rome, Italy)
a b c
Asphyxiating Thoracic Dysplasia 598
Bibliography
Cortina H, Beltram J, Olague R, Ceres L, Alonso A, Lanuza A.
The wide spectrum of the asphyxiating thoracic dysplasia.
Pediatr Radiol 1979; 8: 93–9
Langer LO. Thoracic-pelvic-phalangeal dystrophy: asphyxiat- ing thoracic dystrophy of the newborn, infantile thoracic dystrophy. Radiology 1968; 91: 447–56
Oberklaid F, Danks DM, Mayne V, Campbell P. Asphyxiating thoracic dysplasia: clinical, radiological, and pathological information on 10 patients. Arch Dis Child 1977; 52: 758–65 Sarimurat N, Elcioglu N, Tekant GT, Elicevik M,Yeker D. Jeune’s asphyxiating thoracic dystrophy of the newborn. Eur J Pediatr Surg 1998; 8: 100–1
Yang SS, Langer LO, Cacciarelli A, Dahms BB, Unger ER, Roskamp J, Dinno ND, Chen H. Three conditions in neona- tal asphyxiating thoracic dysplasia (Jeune) and short rib- polydactyly syndrome spectrum: a clinicopathologic study.
Am J Med Genet 1987; 3: 191–207
Fig. 8.2. Patient 4, age 17 months. The pelvis is small in the caudocranial diameter, with short and flared ilia. The acetabu- la show a trident-like appearance, with bony spurs arising at their medial and lateral margins. The sciatic notches are nar- row
Fig. 8.3. Patient 5, age 5 years.
Shortening of the middle and dis- tal phalanges, with cone-shaped epiphyses, most pronounced at the mesophalanges and distal pha- langes of digits 2 and 5. Note metacarpal shortening of varying degree, with multiple pseudoepi- physes, short distal ulna, and bone age dissociation (retarded at the carpus, and advanced at the tubu- lar bones)
