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1999-11-15-17 Asphyxiating thoracic dysplasia © Jeanty

Asphyxiating thoracic dysplasia

Philippe Jeanty, MD, PhD & Sandra R Silva, MD

Definition: Autosomal recessive chondrodysplasia characterized by a small thorax, varying degrees of rhizomelic brachymelia, polydactyly, pelvic abnormalities, and renal anomalies.

Synonyms: Jeune syndrome

Incidence: Unknown, usually affecting Caucasians babies.

Pathogenesis & Etiology: Autosomal recessive disorder.

Diagnosis: The most striking ultrasound finding is a very narrow chest (fig. 1) with short limbs[1],[2],[3],[4],[5]. The limbs however, are not as short as those of other lethal conditions such as thanatophoric dysplasia, achondrogenesis, OI type 2, and the short-rib polydactyly syndromes... The increase iliac wing angle, reported in the radiographic literature has not been reported yet with ultrasound. Pancreatic cysts have been recognized in one case[6].

Figure 1: Longitudinal view of the chest and abdomen of a fetus with Asphyxiating thoracic dysplasia. Note the constriction of the chest. (Reprinted with permission from Dr. Roberto Romero Chief Perinatology Wayne State University).

Genetic anomalies: Defect probably located on the short arm of chromosome 12.

Differential diagnosis: Ellis van Crevelt syndrome (Short arm of chromosome 4) that presents mainly with cardiac anomalies instead of renal anomalies.

Prognosis: In spite of the dreadful name not all newborn are asphyxiated, and with corrective surgery of the chest some patient have had a fairly normal outcome

Management: Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation the pregnancy is opted for. Confirmation of diagnosis after birth is important for genetic counseling.


[1] Ben Ami M, Perlitz Y, Haddad S, Matilsky M: Increased nuchal translucency is associated with asphyxiating thoracic dysplasia. Ultrasound Obstet Gynecol 1997 Oct;10(4):297-8

[2] Chen CP, Lin SP, Liu FF, Jan SW, Lin SY, Lan CC: Prenatal diagnosis of asphyxiating thoracic dysplasia (Jeune syndrome). Am J Perinatol 1996 Nov;13(8):495-8

[3] Skiptunas SM, Weiner S: Early prenatal diagnosis of asphyxiating thoracic dysplasia (Jeune"s syndrome). Value of fetal thoracic measurement. J Ultrasound Med 1987 Jan;6(1):41-3

[4] Meinel K, Himmel D: Status of ultrasound and roentgen diagnosis in prenatal detection of osteochondrodysplasias. Zentralbl Gynakol 1987;109(21):1303-13

[5] Schinzel A, Savoldelli G, Briner J, Schubiger G: Prenatal sonographic diagnosis of Jeune syndrome. Radiology 1985 Mar;154(3):777-8

[6] Hopper MS, Boultbee JE, Watson AR Polyhydramnios associated with congenital pancreatic cysts and asphyxiating thoracic dysplasia. A case report. S Afr Med J 1979 Jul 7;56(1):32-3

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