Focal Dermal Hypoplasia Latest Advances

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: October 14, 2024

Focal Dermal Hypoplasia Latest Advances

Find the Latest Research About Focal Dermal Hypoplasia

A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges.

A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges.

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

Extensive conjunctival papillomatosis in focal dermal hypoplasia.

Extensive conjunctival papillomatosis in focal dermal hypoplasia.

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.

Patient with papillomatous lesions.

Patient with papillomatous lesions.

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy.

Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy.

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.