Achondroplasia

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Achondroplasia

*Gene map locus 4p16.3

ACH

[Clinical features: short-limb dwarfism; characteristic facies with frontal bossing and midface hypoplasia; lumbar lordosis; limitation of elbow extension; genu varum; trident hand]

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Achondroplasia	Infant and 2 children with achondroplasia	Radiographic features of achondroplasia
Diploma in Fetal Medicine Series	eMedicine	Endocrine Reviews


Typical achondroplasia, seen here in a husband and pregnant wife	Achondroplasia	Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report
Endocrine Reviews	Indian Pediatrics	Journal of Medical Case Reports


Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report	Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report	Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report
Journal of Medical Case Reports	Journal of Medical Case Reports	Journal of Medical Case Reports


Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report	Achondroplasia and nail-patella syndrome: the compound phenotype	A Case of Chorioretinal Coloboma in a Patient with Achondroplasia
Journal of Medical Case Reports	Journal of Medical Genetics	Korean Journal of Ophthalmology


A Case of Chorioretinal Coloboma in a Patient with Achondroplasia	A Case of Chorioretinal Coloboma in a Patient with Achondroplasia	A Case of Chorioretinal Coloboma in a Patient with Achondroplasia
Korean Journal of Ophthalmology	Korean Journal of Ophthalmology	Korean Journal of Ophthalmology

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Edited by Aldo Campana, August 21, 2012