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Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D. Pachajoa H, et al. Appl Clin Genet. 2018 Mar 23;11:15-21. doi: 10.2147/TACG.S155022. eCollection 2018. Appl Clin Genet. 2018. PMID: 29615845 Free PMC article.
INTRODUCTION: Mutations in ABCC9 are associated with Cantu syndrome (CS), a very rare genetic disorder characterized by congenital hypertrichosis, acromegaloid facial appearance (AFA), cardiomegaly, and skeletal anomalies. CASE REPORT: We report an 8-year-old female …
INTRODUCTION: Mutations in ABCC9 are associated with Cantu syndrome (CS), a very rare genetic disorder characterized by congenital hypert …
Acromegaloid facial appearance: case report and literature review.
Ghazi A, Khosla S, Becker K. Ghazi A, et al. Case Rep Endocrinol. 2013;2013:970396. doi: 10.1155/2013/970396. Epub 2013 Feb 28. Case Rep Endocrinol. 2013. PMID: 23533839 Free PMC article.
It encompasses a spectrum of acromegaloid physical findings, normal growth hormone (GH) and insulin-like growth factor one (IGF-1) levels, and variable mode of inheritance. ...The patient is a 57-year-old woman who was referred to the endocrinology division for evaluation …
It encompasses a spectrum of acromegaloid physical findings, normal growth hormone (GH) and insulin-like growth factor one (IGF-1) le …
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
Afifi HH, Abdel-Hamid MS, Eid MM, Mostafa IS, Abdel-Salam GM. Afifi HH, et al. Pediatr Dermatol. 2016 Mar-Apr;33(2):e109-13. doi: 10.1111/pde.12821. Epub 2016 Feb 12. Pediatr Dermatol. 2016. PMID: 26871653
Molecular analysis of the ABCC9 gene showed a de novo missense mutation located in exon 27, which has been described previously with Cantu syndrome. An overlap between Cantu syndrome, acromegaloid facial syndrome, and hypertrichosis acromegaloid facial featur …
Molecular analysis of the ABCC9 gene showed a de novo missense mutation located in exon 27, which has been described previously with Cantu s …
Approach to the Patient With Pseudoacromegaly.
Marques P, Korbonits M. Marques P, et al. J Clin Endocrinol Metab. 2022 May 17;107(6):1767-1788. doi: 10.1210/clinem/dgab789. J Clin Endocrinol Metab. 2022. PMID: 34792134
Pseudoacromegaly encompasses a heterogeneous group of conditions in which patients have clinical features of acromegaly or gigantism, but no excess of GH or IGF-1. Acromegaloid physical features or accelerated growth in a patient may prompt referral to endocrinologists. .. …
Pseudoacromegaly encompasses a heterogeneous group of conditions in which patients have clinical features of acromegaly or gigantism, but no …
Acromegaloid facial appearance and hypertrichosis: a case suggesting autosomal recessive inheritance.
Zen PR, Schwartz IV, Paskulin GA. Zen PR, et al. Clin Dysmorphol. 2004 Jan;13(1):49-50. doi: 10.1097/00019605-200401000-00015. Clin Dysmorphol. 2004. PMID: 15127769
We report a patient with features of acromegaloid facial appearance syndrome and hypertrichosis. Her parental history suggests an autosomal recessive form of inheritance....
We report a patient with features of acromegaloid facial appearance syndrome and hypertrichosis. Her parental history suggests …
An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.
Irvine AD, Dolan OM, Hadden DR, Stewart FJ, Bingham EA, Nevin NC. Irvine AD, et al. J Med Genet. 1996 Nov;33(11):972-4. doi: 10.1136/jmg.33.11.972. J Med Genet. 1996. PMID: 8950682 Free PMC article.
We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal …
We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segr …
Cantu syndrome and hypopituitarism: implications for endocrine monitoring.
Theis NJ, Calvert T, McIntyre P, Robertson SP, Wheeler BJ. Theis NJ, et al. Endocrinol Diabetes Metab Case Rep. 2019 Nov 12;2019:19-0103. doi: 10.1530/EDM-19-0103. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2019. PMID: 31743099 Free PMC article.
SUMMARY: Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is characterized by hypertrichosis, cardiac and skeletal anomalies and distinctive coarse facial features. ...The main manifestations of t …
SUMMARY: Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is ch …
16 results