Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome)
- PMID: 477680
- DOI: 10.1007/BF00538945
Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome)
Abstract
We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications.
Similar articles
-
[Focal dermal hypoplasia. Goltz syndrome].Med Cutan Ibero Lat Am. 1982;10(3):191-6. Med Cutan Ibero Lat Am. 1982. PMID: 6296562 Portuguese. No abstract available.
-
Diaphragmatic hernia in the Coffin-Siris syndrome.Genet Couns. 1998;9(1):45-50. Genet Couns. 1998. PMID: 9555587
-
Fryns syndrome: a case associated with karyotype XO.Ann Saudi Med. 2004 Mar-Apr;24(2):129-32. doi: 10.5144/0256-4947.2004.129. Ann Saudi Med. 2004. PMID: 15323276 Free PMC article. No abstract available.
-
Skeletal manifestations in Fryns syndrome.Am J Med Genet. 1995 Jan 16;55(2):217-20. doi: 10.1002/ajmg.1320550213. Am J Med Genet. 1995. PMID: 7717421 Review.
-
Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature.Genet Couns. 2005;16(4):363-70. Genet Couns. 2005. PMID: 16440878 Review.
Cited by
-
The radiological features of Goltz syndrome: focal dermal hypoplasia. A report of two cases.Skeletal Radiol. 1988;17(7):505-8. doi: 10.1007/BF00364045. Skeletal Radiol. 1988. PMID: 3201278
-
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia.J Pediatr Genet. 2023 Mar 28;13(1):29-34. doi: 10.1055/s-0043-1767731. eCollection 2024 Mar. J Pediatr Genet. 2023. PMID: 38567173 Free PMC article.
-
Familial congenital diaphragmatic defect: review and conclusions.Hum Genet. 1980;54(1):1-5. doi: 10.1007/BF00279041. Hum Genet. 1980. PMID: 6993337 Review.
-
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.J Med Genet. 2022 Mar;59(3):270-278. doi: 10.1136/jmedgenet-2020-107317. Epub 2021 Jan 18. J Med Genet. 2022. PMID: 33461977 Free PMC article.
-
X-linked dominant inherited diseases with lethality in hemizygous males.Hum Genet. 1983;64(1):1-23. doi: 10.1007/BF00289472. Hum Genet. 1983. PMID: 6873941