Differential diagnosis includes trisomy 13, Zellweger syndrome, Agostino syndrome and
Jeune syndrome. Karyotypic and genetic analyses are necessary to help differentiate them from MGS.
He was found to have features suggestive of Jeune syndrome (asphyxiating thoracic dystrophy).
Jeune syndrome. Postgrad Med J 2008 Oct;84(996):559.
Widely spaced nipples are seen in several genetic disorders and other conditions, such as Turner syndrome, [1] and closely spaced nipples are associated with
Jeune syndrome and cerebrocostomandibular syndrome.
Jeune syndrome or asphyxiating thoracic dystrophy is a rare autosomal recessive skeletal dysplasia characterised by a small chest and short ribs which restrict the growth and expansion of the lungs (1).
Clinically, Jeune syndrome is characterized by a small, narrow chest and variable limb shortness.
Jeune syndrome is sometimes compatible with life, although respiratory failure and infections are often fatal during infancy.
(3.) Hennekam RCM, Beemer FM, Gerards LJ, Cats B (1983) Thoracic pelvic phalangeal dystrophy (Jeune syndrome).
(6.) Amirou M, Bourdat-Michel G, Pinel N et al (1998) Brief report: successful renal transplantation in Jeune syndrome type 2.
Kelly from Ohio wrote asking for a match for her son who has lethal asphyxiating thoracic dystrophy or
Jeune Syndrome. She had been told that this was an extremely rare condition and that the few known cases had died by age 2 years from lung complications.
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Jeune syndrome, another related disorder, is an autosomal recessive condition characterized by small chest, renal anomalies and retinal degeneration.
(1) Asphyxiating thoracic dystrophy (
Jeune Syndrome) Lawrence-Moon-Bardet Biedl Syndrome, Short rib polydactyly syndromes and Cerebro-Hepato-Renal Syndrome (Zellweger Syndrome) figure in the differentials, as all these are autosomal recessive disorders associated with renal cysts.
