Hypochondroplasia

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Acanthosis nigricans

A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.


Total: 11

                       


(per page)
PMID (PMCID)
30762251
 MIXED_SAMPLE Child
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
Muguet Guenot L, Aubert H, Isidor B, Toutain A, Mazereeuw-Hautier J, Collet C, Bourrat E, Denis Musquer M, Barbarot S.
Pediatr Dermatol. 2019;36(2):242-246.
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
30168875
 MIXED_SAMPLE Child
Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients.
Yasuda M, Morimoto N, Shimizu A, Toyoshima T, Yokoyama Y, Ishikawa O.
J Dermatol. 2018;45(11):1357-1361.
Familial acanthosis nigricans caused by the mutation of the fibroblast growth factor receptor 3 (FGFR3) gene is characterized by short stature, hypochondroplasia and acanthosis nigricans.
28181399
 MALE Child
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.
Am J Med Genet A. 2017;173(4):1097-1101.
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans).
28181399
 MALE Child
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.
Am J Med Genet A. 2017;173(4):1097-1101.
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans).
28181399
 MALE Child
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.
Am J Med Genet A. 2017;173(4):1097-1101.
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
28181399
 MALE Child
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.
Am J Med Genet A. 2017;173(4):1097-1101.
We describe the clinical history of an 8-year-old child with a skeletal dysplasia in the achondroplasia-hypochondroplasia spectrum, acanthosis nigricans, typical development, and the recently described p.Ser348Cys FGFR3 mutation.
25119967
 FEMALE Infant
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.
Farmakis SG, Shinawi M, Miller-Thomas M, Radmanesh A, Herman TE.
Skeletal Radiol. 2015;44(3):441-5.
Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia types 1 and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type.
21510009
 FEMALE Child
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
Berk DR, Boente Mdel C, Montanari D, Toloza MG, Primc NB, Prado MI, Bayliss SJ, Pique LM, Schrijver I.
Pediatr Dermatol. 2010;27(6):664-6.
Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia.
21510009
 FEMALE Child
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
Berk DR, Boente Mdel C, Montanari D, Toloza MG, Primc NB, Prado MI, Bayliss SJ, Pique LM, Schrijver I.
Pediatr Dermatol. 2010;27(6):664-6.
We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia.
20453470
 FEMALE
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
Blomberg M, Jeppesen EM, Skovby F, Benfeldt E.
Dermatology. 2010;220(4):297-305.
We present a 14-year-old girl with mild hypochondroplasia who developed acanthosis nigricans.
20453470
 FEMALE
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
Blomberg M, Jeppesen EM, Skovby F, Benfeldt E.
Dermatology. 2010;220(4):297-305.
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.