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ISSN 1561-3119 (Electronic)

2019, Number 1

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Rev Cubana Pediatr 2019; 91 (1)

Goltz Syndrome or focal dermal hypoplasia

Flores OM, Almunia QJA, Gbenou MY, Freixas FG

Language: Spanish
References: 27
Page: 1-11
PDF size: 252.76 Kb.


ABSTRACT

Introduction: Goltz syndrome also known as focal dermal hypoplasia is a rare genetic disease in the ectodermal dysplasia´s group and with a mechanism of dominant inheritance linked to the X chromosome.
Objectives: To describe the clinical characteristics of the Goltz syndrome, its diagnosis and treatment.
Case presentation: Case of a 4 year-old female patient diagnosed with Goltz syndrome. She was studied by a multidisciplinary team including Genetics, Maxillofacial Surgery, Stomatology, Dermatology, Ophthalmology, Orthopedics and ORL specialists.
Conclusions: Goltz syndrome or focal dermal hypoplasia is mainly characterized by skin affectations; eyes, dental, skeletal, and face anomalies; gastrointestinal tract, urinary, cardiovascular and central nervous systems´ affections with varying degrees of severity. The diagnosis is clinical. A multidisciplinary approach is essential for a proper diagnosis and treatment; and prognosis depends on the grade of severity.


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