Thoracic dysplasia-hydrocephalus syndrome | |
---|---|
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Specialty | Medical genetics |
Usual onset | Birth |
Prevention | none |
Prognosis | poor; respiratory failure soon after birth is common |
Deaths | 2 |
Thoracic dysplasia-hydrocephalus syndrome is a rare autosomal recessive genetic disorder characterized by shortening of the ribs, narrowing of the chest, mild shortening of the limbs (rhizomelia), hydrocephalus, and variable developmental delays. [1] [2] [3] [4] It has been described in two siblings born to consanguineous Pakistani parents. [5]
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cite web}}
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cite journal}}
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Thoracic dysplasia-hydrocephalus syndrome | |
---|---|
![]() | |
Specialty | Medical genetics |
Usual onset | Birth |
Prevention | none |
Prognosis | poor; respiratory failure soon after birth is common |
Deaths | 2 |
Thoracic dysplasia-hydrocephalus syndrome is a rare autosomal recessive genetic disorder characterized by shortening of the ribs, narrowing of the chest, mild shortening of the limbs (rhizomelia), hydrocephalus, and variable developmental delays. [1] [2] [3] [4] It has been described in two siblings born to consanguineous Pakistani parents. [5]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
{{
cite journal}}
: CS1 maint: multiple names: authors list (
link)