Hypochondroplasia
Achondroplasia-hypochondroplasia complex in a newborn infant. Source/Author: Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan DT.; Am J Med Genet. 1999 Jun 11;84(5):396-400. Abstract Case report of a patient with achondroplasia and hypochondroplasia - prenatally and postnatally.
Achondroplasia-hypochondroplasia complex. Source/Author: Sommer A, Young-Wee T, Frye T.; Am J Med Genet. 1987 Apr;26(4):949-57. Abstract Case report of a teenager with both achondroplasia and hypochondroplasia.
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. Source/Author: Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D.; Am J Med Genet. 1999 Jun 11;84(5):401-5. Abstract Case report of prenatal diagnosis of parents, one with achondroplasia and one with hypochondroplasia, and their child who inherit genetic mutations for both conditions.
Double heterozygosity in bone growth disorders: four new observations and review. Source/Author: Flynn MA, Pauli RM. Abstract Reviews the following cases of double heterozygosity: achondroplasia & spondyloepiphyseal dysplasia congenita, achondroplasia & pseudoachondroplasia, achondroplasia & osteogenesis imperfecta type I, achondroplasia & hypochondroplasia, pseudoachondroplasia & spondyloepiphyseal dysplasia congenita, Leri-Weill Dyschondrosteosis & hypochondroplasia/achondroplasia, osteogenesis imperfecta & pseudoachondroplasia.
HYPOCHONDROPLASIA; HCH Source/Author: OMIM, Online Mendelian Inheritance in Man Web-based (medical) Medical/Scientific description of hypochondroplasia with emphasis on the genetics of the condition
Hypochondroplasia Source/Author: Geneva Foundation for Medical Education and Research Web-based (medical) X-rays, photographs and links to articles on this condition.
Hypochondroplasia Source/Author: Clair A Francomano, MD, FACMG ; GeneReviews Web-based (medical) Detailed discussion of the condition in medical terminology. Includes diagnosis, clinical description, differential diagnosis, management, genetic counseling, molecular genetics, resources
Hypochondroplasia Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours Medical Review Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis,etc.
Natural History: Hypochondroplasia Source/Author: Richard M. Pauli, M.D., Ph.D., Medical Review Review of the various medical complications that can occur with hypochondroplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Original documents can be ordered from the Midwest Regional Bone Dysplasia Clinic.
Prenatal diagnosis of hypochondroplasia: report of two cases. Source/Author: Karadimas C, Sifakis S, Valsamopoulos P, Makatsoris C, Velissariou V, Nasioulas G, Petersen MB, Koumantakis E, Hatzaki A. Abstract Diagnosis of two babies with hypochondroplasia in pregnancy by ultrasound after 23 weeks gestation.
Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. Source/Author: Huggins MJ, Mernagh JR, Steele L, Smith JR, Nowaczyk MJ.; Am J Med Genet. 1999 Nov 26;87(3):226-9. Abstract Prenatal diagnosis of hypochondroplasia by ultrasound
Hypochondroplasia. Source/Author: Specht EE, Daentl DL.; Clin Orthop Relat Res. 1975 Jul-Aug;(110):249-55. Abstract Discussion of hypochondroplasia for orthopedic surgeons
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