Atypical facial clefting in a patient with Goltz syndrome

Rodini, Elaine Sbroggio de Oliveira; Machado-Paula, Ligiane Alves; Vendramini, Siulan; Guion‐Almeida, Maria Leine

doi:10.1002/ajmg.a.30141

Cited by 9 publications

(5 citation statements)

References 5 publications

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“…Midline thoracoabdominal schisis and limb defects in an infant [17]. The occurrence of atypical facial clefting in a patient with Goltz syndrome [18]. A horseshoe kidney in a patient with Goltz syndrome [19].…”

Section: Discussionmentioning

confidence: 99%

Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia

Al Kaissi,

Ryabykh,

Kenis

et al. 2023

Children

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Background: The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process. Material and Methods: Six girls (aged 6-month–8 years) and two older girls (aged 13 and 16 years) were born with variable skin lesions of varying intensities associated with noticeable cranial and skeletal malformation complexes. Cleft palate, abnormal dentition, and multiple papillomas were evident around the mouth, mostly bilateral but asymmetrical in the upper and lower limbs. Exaggerated frontal bossing (macrocephaly) and in some patients’ microcephaly with variable skeletal defects of the craniocervical junction and diverse forms of lower limb deformities of syndactyly, polydactyly, and split-hand/foot (ectrodactyly). Results: All patients manifested the constellation of abnormalities with variable intensities ranging between alopecia, papillomas, striated skin pigmentations split-hand/foot (ectrodactyly), and major bone defects. A 3D reconstruction CT scan was directed mainly to further scrutinize children with pseudo cleft lip, submucus cleft, and cleft palate. Interstingly, they manifested massive demineralization of the cranium associated with severely defective dentition. A spine 3D reconstruction CT scan in two girls showed marked cystic cavitation of the upper jaw associated with excessive cavitation of the mastoid, causing tremendous frailty of the mastoid bone. A 3D sagittal CT scan showed odontoid hypoplasia and C1-2 instability associated with the rudimentary atlas and the persistence of extensive synchondrosis of the cervico-thoracic spine. The overall clinical and radiological phenotypic characterizations were consistent with the diagnosis of focal dermal hypoplasia (Goltz syndrome). Two children manifested heterozygous mutations in the PORCN gene, chromosome Xp11. Conclusions: In this study, we believe it’s a good opportunity to share our novel scientific findings, which are intriguing and can be inspiring to readers, and to further aid the current scientific literature with exceptionally new unveiling results. This is the first comprehensive study of the cranio-skeletal malformation complex in children with GS.

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Section: Discussionmentioning

confidence: 99%

Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia

Al Kaissi,

Ryabykh,

Kenis

et al. 2023

Children

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“…Only five cases of Goltz syndrome combined with a facial cleft have been reported before. [7][8][9][10][11] One case had a Tessier No. 7 facial cleft, and the others had oblique facial clefts.…”

Section: Discussionmentioning

confidence: 99%

Goltz Syndrome Combined with Triple X Syndrome, a Case Report

Sone

Honda

Sakuraba

et al. 2022

The Cleft Palate Craniofacial Journal

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Goltz syndrome is a rare X-linked dominant multisystem disorder that presents with ectoderm and mesoderm-derived symptoms. Skin manifestations including congenital patchy skin aplasia, congenital nodular fat herniation, congenital hypo- or hyperpigmentation along Blaschko's lines, telangiectasia, and congenital ridged dysplastic nails are typical in this disorder. Almost all cases of Goltz syndrome correspond to female newborns and that hemizygosis makes the syndrome fetal in males. Triple X syndrome is a relatively common congenital disorder that presents with mild to no symptoms in the developmental and psychiatric realm. The patient reported here was born with multisystem anomaly affecting the eyes, craniofacial region, cardiovascular system, skin, and limbs. A G-banding chromosomal study revealed 47, XXX. She was diagnosed with Goltz syndrome owing to her distinctive skin manifestations. The congenital cervical skin defect healed with conservative treatment. The facial cleft, cleft lip-palate, and syndactyly were successfully treated with multiple surgical treatments. The combination of triple X syndrome and Goltz syndrome is very rare. We describe the expression of presenting with both syndromes simultaneously.

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“…There are published reports of males with focal dermal hypoplasia which present a post-zygotic mutation that has an exclusive expression in female offspring [5][6][7]. Clinical manifestations are well described in medical literature [8][9][10].…”

Section: Case Imentioning

confidence: 97%