The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
The orthopedic characterization of Goltz syndrome
Abstract
Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare condition in which congenital anomalies result in a multitude of defects that affect many systems of the body. These defects can involve the eyes, skin, teeth, and cardiovascular, skeletal, and gastrointestinal systems. There have been many associated abnormalities reported in the literature. An appreciation of the clinical presentation of Goltz syndrome is important because physicians rely heavily on recognition of key physical characteristics in order to help make a diagnosis. In this report, we summarize the clinical findings observed when we were afforded the unique opportunity to interview and physically examine 19 patients, the largest group of individuals with Goltz syndrome brought together in one place to date. The findings are intended to characterize the orthopedic phenotypic manifestations of Goltz syndrome. This collection of data revealed that the most common orthopedic findings were syndactyly (68%), ectrodactyly (68%), leg length discrepancy (57%), and reduction defects of long bones (52%). Nail irregularities were present in 89% of the patients seen.
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“Limb defects are common, including syndactyly and ectrodactyly, leg length discrepancy, osteopathia striata, and short stature.[41]”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [41]
Citations
Cites
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
Grzeschik, K., Bornholdt, D., Oeffner, F., König, A., Boente, M. D. C., Enders, H., Fritz, B., Hertl, M., Grasshoff, U., Höfling, K., et al. (2007) · Nature Genetics · doi:10.1038/ng2052 · Cited by 289
Focal dermal hypoplasia (Goltz syndrome).
Temple, I. K., MacDowall, P., Baraitser, M., & Atherton, D. J. (1990) · Journal of Medical Genetics · doi:10.1136/jmg.27.3.180 · Cited by 127
Focal dermal hypoplasia: updates
Wang, L., Jin, X., Zhao, X., Liu, D., Hu, T., Li, W., Jiang, L., Dan, H., Zeng, X., & Chen, Q. (2013) · Oral Diseases · doi:10.1111/odi.12083 · Cited by 55
A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient
Lasocki, A. L., Stark, Z., & Orchard, D. C. (2010) · Australasian Journal of Dermatology · doi:10.1111/j.1440-0960.2010.00662.x · Cited by 22
Ghoshal, B., Lahiri, S., & Nandi, D. (2012) · Case Reports in Pediatrics · doi:10.1155/2012/728509 · Cited by 7
Cited by
Sorted by citations
Focal dermal hypoplasia (Goltz Syndrome): A cross-sectionalstudy from Eastern India
Ghosh, S. K., Dutta, A., Sarkar, S., Nag, S. S., Biswas, S. K., & Mandal, P. (2017) · Indian Journal of Dermatology · doi:10.4103/ijd.ijd_317_17 · Cited by 27
Ectodermal Dysplasia – An Overview and Update
Dev, A., Malhi, K., & Mahajan, R. (2024) · Indian Dermatology Online Journal · doi:10.4103/idoj.idoj_599_23 · Cited by 19
“[41] Malformations of the gastrointestinal and urogenital systems may also occur.”
BackgroundHerlin, L. K., Herlin, M. K., Vinter, H., Blechingberg, J., Andersen, B. N., Kruse, C., & Sommerlund, M. (2024) · Pediatric Dermatology · doi:10.1111/pde.15752 · Cited by 10
Growth failure in focal dermal hypoplasia
Hsu, S. C., Bartz, S., Pyle, L. L., Fete, M. D., Davis, S., Ohman-Hanson, R. A., Fete, T. J., & Motil, K. J. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61051 · Cited by 8
Mansouri, M., Bouzid, F., Amal, S., Hocar, O., & Aboussair, N. (2023) · Indian Journal of Dermatology · doi:10.4103/ijd.ijd_508_22 · Cited by 7
Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
Yesodharan, D., Büschenfelde, U. M. Z., Kutsche, K., Nair, K., & Nampoothiri, S. (2018) · The Indian Journal of Pediatrics · doi:10.1007/s12098-018-2632-1 · Cited by 3
A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features
Akalın, A., Grzeschik, K., Ütine, E., Boduroğlu, K., & Şimşek‐Kiper, P. Ö. (2024) · Molecular Syndromology · doi:10.1159/000535681 · Cited by 2
Divyasri, N., Javid, J., Kunnuru, S. R., & Anne, B. (2024) · BMJ Case Reports · doi:10.1136/bcr-2024-260377 · Cited by 2
Freethy, A., Acharya, V., Iacovidou, A., & Taghi, A. S. (2019) · BMJ Case Reports · doi:10.1136/bcr-2019-231809 · Cited by 1
A Case of Familial Focal Dermal Hypoplasia: A Report of 3 Cases in Consecutive Generations
Castillo, D. E., Nagrani, N. K., Castillo, D., oz, R. R. M., Guevara, M. C. R., Morales, S. D., & Nichols, A. J. (2018) · SKIN The Journal of Cutaneous Medicine · doi:10.25251/2.5.5
Tonsillar fat herniation: A novel finding in Goltz syndrome
Lin, Z., Wang, Z., & Wang, H. (2020) · Indian Journal of Dermatology Venereology and Leprology · doi:10.4103/ijdvl.ijdvl_270_20
Treatment of papillomatous lesions in a patient with Goltz syndrome—A case report
Fernandez, A. M., Siqueira, G. M., Cavalcante, M. B. C., Fonseca, M. T., Arantes, D. A. C., Costa, N. L., & Goulart, D. R. (2021) · Oral Surgery · doi:10.1111/ors.12706
A Rare Case of Focal Dermal Hypoplasia: Goltz Syndrome; Goltz Gorlin Syndrome
Sharma, M., Khade, A. S., Bhoi, U. Y., & Gaurkar, S. (2022) · Journal of Skin and Stem Cell · doi:10.5812/jssc.121305
Chan, J. S. L., Wu, P. K. W., Yiu, W. C., Ho, S. K. L., & Luk, H. (2026) · The Cleft Palate-Craniofacial Journal · doi:10.1177/10556656261431892
Metadata
- Authors
- Smith, A., & Hunt, T. R.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Smith, Amanda
- Venue
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2016-02-11
- Volume
- 172
- Issue
- 1
- Pages
- 41-43
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- OpenAlex
- W2256564383
- Cited by
- 14
- References
- 5
- Citations by year
- 2026: 1 · 2024: 4 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 1 · 2019: 2 · 2018: 2 · 2017: 1
- FWCI
- 1.82
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Goltz syndrome, focal dermal hypoplasia, orthopedic manifestations, syndactyly, ectrodactyly, limb length discrepancy, nail disorders, congenital malformations, phenotypic characterization
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Child, Child, Preschool, Female, Focal Dermal Hypoplasia, Humans, Infant, Male, Middle Aged, Musculoskeletal Abnormalities, Phenotype, Young Adult
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