Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin Syndrome)

1979 ◽  
Vol 131 (3) ◽  
pp. 213-218 ◽  
Author(s):  
J. Kunze ◽  
K. Heyne ◽  
H.-R. Wiedemann
Keyword(s):  
Diaphragmatic Hernia ◽  
Gorlin Syndrome ◽  
Focal Dermal Hypoplasia

scholarly journals Focal dermal hypoplasia (Goltz-Gorlin) syndrome with taurodontism

1996 ◽  
Vol 16 (1) ◽  
pp. 26-28 ◽  
Author(s):  
Triona McNamara ◽  
A.M. Hahessy ◽  
P. Kavanagh
Keyword(s):  
Gorlin Syndrome ◽  
Focal Dermal Hypoplasia

Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in thePORCNgene (c.1250T>C:p.F417S) and unusual spinal anomaly

2013 ◽  
Vol 161 (7) ◽  
pp. 1750-1754 ◽  
Author(s):  
Livia Garavelli ◽  
Graziella Simonte ◽  
Simonetta Rosato ◽  
Anita Wischmeijer ◽  
Enrico Albertini ◽  
...  
Keyword(s):  
Gorlin Syndrome ◽  
Focal Dermal Hypoplasia ◽  
Novel Variant

scholarly journals Unilateral Tonsillar Hypertrophy in a 4-Year-Old Girl with Focal Dermal Hypoplasia (Goltz Syndrome)

2018 ◽  
Vol 32 (2) ◽  
pp. 43-46
Author(s):  
John Emmanuel L. Ong ◽  
Emmanuel Tadeus S. Cruz ◽  
Clydine Maria Antonette G. Barrientos
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Severe Obstructive Sleep Apnea ◽  
Gorlin Syndrome ◽  
Tonsillar Hypertrophy ◽  
Arterial Blood ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome ◽  
Obstructive Sleep ◽  
Tertiary Teaching

Objective: To report a case of unilateral tonsillar hypertrophy resulting in severe Obstructive Sleep Apnea in a 4-year-old girl with focal dermal hypoplasia (FDH, Goltz or Goltz-Gorlin) Syndrome. Methods: Design:           Case Report Setting:           Tertiary Teaching Hospital             Subject:          One Results: A 4-year-old girl with Goltz Syndrome (classical features of cutaneous and osteopathic disorders since birth) and unilateral tonsillar hypertrophy manifested with snoring and apneic episodes at two years of age. Polysomnography revealed severe Obstructive Sleep Apnea, and Arterial Blood Gases revealed metabolic acidosis with hypoxemia. A tonsillectomy and adenoidectomy improved breathing, appetite and sleep with resolution of snoring and apneic spells and final tonsil histopathology revealed lymphoepithelial polyp. Conclusion: A 4-year-old child with Goltz syndrome, who developed severe obstructive sleep apnea due to tonsillar hypertrophy was presented.  Otolaryngologists should be aware of this syndrome, which may manifest with oral and mucosal lesions.   Although rare, Goltz syndrome may be considered in the differential diagnosis of tonsillar hypertrophy especially in the presence of the inherent clinical features. Physicians should educate patients and address the co-morbidities associated with it through individualized treatment.     Keywords: Focal Dermal Hypoplasia, Unilateral Tonsillar Hypertrophy, Goltz Syndrome, Goltz-Gorlin Syndrome  

A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

2018 ◽  
Vol 154 (3) ◽  
pp. 119-121
Author(s):  
Ceren D. Durmaz ◽  
John McGrath ◽  
Lu Liu ◽  
Halil G. Karabulut
Keyword(s):  
Case Report ◽  
Frameshift Mutation ◽  
Stop Codon ◽  
Novel Mutation ◽  
Premature Stop Codon ◽  
Clinical Findings ◽  
Gorlin Syndrome ◽  
Focal Dermal Hypoplasia ◽  
Skeletal Defects ◽  
The Right

Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot. These clinical findings were compatible with the diagnosis of FDH, and a novel mutation, NM_022825.3:c.488delG was found in the PORCN gene causing a premature stop codon.

scholarly journals Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

2015 ◽  
Vol 7 (2) ◽  
pp. 90-94 ◽  
Author(s):  
Stefan Gysin ◽  
Peter Itin
Keyword(s):  
Wnt Pathway ◽  
Molecular Genetic ◽  
Definitive Diagnosis ◽  
Molecular Genetic Testing ◽  
Gorlin Syndrome ◽  
Enamel Defects ◽  
Skin Changes ◽  
Focal Dermal Hypoplasia ◽  
Blaschko Lines ◽  
Typical Skin

Focal dermal hypoplasia (FDH) is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, oral and dental defects. The skin and dental alterations manifest along the Blaschko lines. We present a woman (born in 1962) suffering from FDH with congenital skin changes and Blaschko linear enamel defects. Typical symptoms (e.g. fat herniations, scoliosis, syndactyly, microphthalmia, caries and alopecia) plus vertical grooving of all teeth gave a first indication. Molecular genetic testing confirmed the definitive diagnosis of FDH. We hypothesize that, in the context of typical skin changes, visible Blaschko lines on the teeth in the form of vertical grooves are almost pathognomonic for FDH.

Focal dermal hypoplasia: oral and dental findings

2006 ◽  
Vol 30 (1) ◽  
pp. 67-72 ◽  
Author(s):  
Zahra Tejani ◽  
Puneet Batra ◽  
Carol Mason ◽  
David Atherton
Keyword(s):  
Psychological Impact ◽  
Self Esteem ◽  
Early Age ◽  
Gorlin Syndrome ◽  
Dental Anomalies ◽  
Enamel Hypoplasia ◽  
Focal Dermal Hypoplasia ◽  
Plaque Control ◽  
And Function

Focal Dermal Hypoplasia/Goltz Gorlin syndrome is a rare syndrome characterized by widespread dysplasia affecting tissues of mesodermal and ectodermal origin with cutaneous, osseous, ocular, oral and dental defects. Enamel hypoplasia is the most commonly reported dental manifestation and has recently been described as a possible manifestation of Lyonisation. This article reviews the reported dental findings and reports a new case with typical findings of focal dermal hypoplasia, which has been under review on our department for 10 years. It discusses the differential diagnosis as well as newer concepts of aetiology and pathogenesis in relation to dental anomalies. Enamel hypoplasia may make plaque control difficult, resulting in generalized gingivitis. Hand anomalies may limit dexterity and exacerbate this. From the dental standpoint we emphasize the implementation of timely preventive and/or therapeutic strategies. Since there are periods of exacerbation during the course of this syndrome, regular surveillance from an early age with the frequency of visits increasing during and after adolescence is indicated. The role of the dentist in improving aesthetics and function can have tremendous psychological impact to enhance self-esteem of such patients.

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