JEUNE’S SYNDROME –

ASPHYXIATING THORACIC DYSTROPHY

Autosomal recessive

ULTRASOUND

• Limbs.
• Proportional shortening of long bones.
• Rhizomelic brachymelia (humerus, femur). Long bones shorter and wider than normal.
• Irregular metaphysis.
• Shortening of the distal phalanges.
• ± Polydactyly.
• Chest.
• Small thorax with decreased circumference (elongated and bell shaped).
• Normal size heart resulting in an increased cardiothoracic ratio.
• Short horizontal ribs.
• Renal cystic changes may be present.
• Polyhydramnios.
• Increased nuchal translucency.
• Other less common anomalies include pancreatic fibrosis, situs inversus and deformed teeth.

CLASSIFICATION

• The Working Group on Constitutional Diseases of Bone classified Jeune syndrome as one of the short rib (SR) dysplasia syndromes (S) with or without polydactyly (P) (6)

4 Types are recognized:

• Type I = Saldino-Noonan's syndrome (3).
• Type II = Majewski's syndrome (4).
• Type III = Verma-Naumoff type (5).
• Type IV = Beemer-Langer.

• Yang et.al. (7) differentiated between two types of Jeune syndrome (based on radiological and histopathological characteristics):

1. Type 1 ATD.
2. Type 2 ATD

OUTCOME

• The disease is usually severe but not uniformly fatal.
• It is fatal in about 70% of cases due to asphyxia from the small thoracic cavity and respiratory distress. Those that do survive usually have progressive improvement in relative growth of the thoracic cavity and only slight to moderate shortness of stature.
• Chronic nephritis leading to renal failure (which may be evident by 2 years of age) is a serious potential complication.
• Progressive hepatic dysfunction is an infrequent complication.

DIFFERENTIAL DIAGNOSIS

• Ellis van Creveld syndrome (polydactyly and hypoplastic nails are found in nearly every case and congenital heart disease in 50%).
• Short rib polydactyly syndrome (usually associated with polydactyly, micromelia and abnormal vertebrae).

	Jeune syndrome	Ellis–van Creveld syndrome	SRPS type III
Long bones	Moderately shortened	Shortened (rhizomelia)	Severely shortened
Ribs	Short, horizontal		Extremely short, horizontal
Thorax	Mild to severely narrow		Narrow, cylindrically shaped
Hands Feet	Polydactyly of hands and feet (inconstant feature)	All cases: postaxial polydactyly of hands Some cases: dysplasia of fingernails Minority of cases: polydactyly of feet	Postaxial polysyndactyly
Face		Partial harelip (associated with natal teeth)	Flat face
Visceral anomalies	Renal and liver failure starting in infancy	> 50%: heart defect - ASD (primum type) Epispadia Dandy–Walker malformation	Urogenital anomalies (ambiguous genitalia) Hydrops fetalis
X-ray	Short horizontal ribs Trident-shaped pelvis Square iliac wings Horizontal acetabular roofs with medial spurs Proximal femoral ossification centers present at birth (two thirds of the cases)	Wrist: fusion of hamate and capitate bones (characteristic) Trident shaped pelvis Erosion of lateral aspects of the proximal tibial metaphysis	Short horizontal ribs Horizontal trident lower iliac margins Flat acetabulae Severely shortened long bones Widened metaphyses Longitudinal metaphyseal spurs Vertebral abnormalities

Adapted from reference 5.

REFERENCES

1. Elejalde BR, de Elejalde MM, Pansch D. Prenatal diagnosis of Jeune syndrome. Am J Med Genet 1985;21:433.
2. Chen CP, Lin SP, Liu FF et.al. Prenatal diagnosis of asphyxiating thoracic dystrophy. Am J Perinatol 1996;13:495.
3. Brueton LA, Dillon MJ, Winter RM. Ellis van Creveld syndrome. Jeune syndrome and renal-hepatic-oancreatic dysplasia: Separate entities or diseasespectrum. J Med Genet 1990;27:252.
4. Tongsong T, Chanprapaph P, Thongpadungroj T. Prenatal sonographic findings associated with Asphyxiating Thoracic Dystrophy (Jeune syndrome). J Ultrasound Med 1999;18:573-576.
5. Den Hollander NS, Robben SGF, Hoogeboom AJM et.al. Early prenatal diagnosis and follow up of jeune syndrome. Ultrasound Obstet Gynecol 2001;18:378-383.
6. Beighton P, Giedion A, Gorlin R et.al. International classification of osteochondrodysplasias. Am J Med Genet 1992;44:223-229.
7. Yang SS, Langer LO et.al. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinico pathologic study. Am J Med Genet Suppl 1987;3:191-207.