Xia-Gibbs Syndrome: A Rare Case Report of a Male Child and Insight into Physiotherapy Management

Goyal, Chanan; Naqvi, Waqar M.; Sahu, Arti

doi:10.7759/cureus.9622

Cited by 19 publications

(26 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Damage to DNA, which contains the blueprint of protein synthesis, influences and ultimately alters brain development, consequently painting the clinical picture of XGS [ 5 , 32 ]. The striking features of XGS are cognitive impairment, delayed development, expressive language delay, brain structure anomalies, low tone, dysmorphic facies, vision issues, and poor quality sleep [ 1 - 4 , 9 , 12 , 13 , 33 - 35 ]. Sleep apnea has been described in many patients with polysomnographic confirmation.…”

Section: Reviewmentioning

confidence: 99%

“…Although aggression is not a common finding, self-injurious behaviour has been reported in a few children diagnosed with XGS [ 2 , 4 , 9 , 12 ]. In August 2020, Goyal et al also reported unilateral ptosis and scoliosis in an Indian child diagnosed with XGS [ 35 ]. Dysmorphic features of the face include depressed nasal bridge, hypertelorism, downslanting or upslanting palpebral fissures, horizontal eyebrows, dysplastic dentition, thin upper lip vermilion, and micrognathia [ 1 , 4 , 9 , 12 , 13 , 30 , 35 ].…”

Section: Reviewmentioning

confidence: 99%

“…In more than half of the patients, brain abnormalities like corpus callosum hypoplasia or dysgenesis, delayed myelination or hypomyelination, leukomalacia, dysmorphic sulci-gyri, and cystic lesion, have been observed as magnetic resonance imaging (MRI) findings [ 1 - 3 , 12 , 13 , 30 , 33 - 35 ]. Movement disorders including ataxia, tremors, and bradykinesia are frequently associated with XGS [ 2 , 4 , 31 ].…”

Section: Reviewmentioning

confidence: 99%

“…Physiotherapy is well established as being crucial in treatment of motor delay due to various etiology. A study conducted by Goyal et al (2020) demonstrated tremendous improvement in gross motor skills of a child with XGS [ 35 ]. At the time of presentation, he was two years old and was unable to sit without support.…”

Section: Reviewmentioning

confidence: 99%

“…Mild scoliosis was dealt with gentle rib cage mobilization, facilitation of side flexor muscles of the trunk, and supported hanging. Trunk stabilizing pressure input orthosis (SPIO), bilateral ankle-foot orthosis (AFO), and a rollator walker were used during the course of rehabilitation [ 35 ]. This physiotherapy intervention significantly increased the child's participation in society.…”

Section: Reviewmentioning

confidence: 99%

See 4 more Smart Citations

Xia-Gibbs Syndrome: A Review of Literature

Goyal¹,

Naqvi²,

Sahu³

et al. 2020

Cureus

Self Cite

View full text Add to dashboard Cite

Xia-Gibbs syndrome (XGS) is a rare genetic disorder that has been discovered as a distinct clinical entity in the recent past. The occurrence has been attributed to the mutation of AT Hook DNA binding motif Containing 1 (AHDC1) gene that is carried on chromosome 1p36. The concerned gene participates in deoxyribonucleic acid (DNA) repair apart from other crucial functions. The mutation results in dysfunction that leads to neurodevelopmental delay. The spectrum of manifestations constitutes intellectual disabilities, hypotonia, expressive language delay, sleep difficulties, and short stature. Dysmorphic facial features include depressed nasal bridge, hypertelorism, down-slanting or up-slanting palpebral fissures, horizontal eyebrows, dysplastic dentition, thin upper lip vermilion, and micrognathia. The phenotype is still expanding. The condition may range from mild to severe dysfunction depending on the area and site of genetic aberration but variation is evident. Thus, the correlation between genotype and phenotype is largely unclear. XGS should be considered as a differential diagnosis for patients presenting with intellectual as well as developmental disabilities. Whole-exome sequencing (WES) is the genetic test that is largely used for the confirmation of diagnosis. Less is known about the natural history as only a few adults with XGS have been documented in the literature. Age-appropriate cancer screening is recommended for patients with XGS as the gene mutation alters DNA repair mechanisms that may trigger tumour formation. The management of patients diagnosed with XGS is an area that needs investigation. Though use of growth hormone replacement therapy and physiotherapy intervention have been reported as effective in previous studies, research on effective means of care of these patients is warranted on a larger number of patients. We present a review of current literature on what is known about XGS that would facilitate to identify knowledge gaps for paving a way for further studies. This, in turn, will help in provision of early and effective rehabilitation services for patients with XGS.

show abstract

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

See 3 more Smart Citations

Xia-Gibbs Syndrome: A Review of Literature

Goyal¹,

Naqvi²,

Sahu³

et al. 2020

Cureus

Self Cite

View full text Add to dashboard Cite

show abstract

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature

Baga,

Ivanovski,

Contrò

et al. 2023

Mol Syndromol

View full text Add to dashboard Cite

Introduction: Xia-Gibbs syndrome (OMIM 615829) is a rare developmental disorder, caused by heterozygous de novo variants in the AHDC1 gene. Hallmark features include global developmental delay, facial dysmorphisms, and behavioral problems. To date, more than 250 individuals have been diagnosed worldwide. Case Report: We report a 13-year-old female who, in association with typical features of Xia-Gibbs syndrome, presented with macrocrania, pes cavus, and conjunctival melanosis. Whole-exome sequencing identified a de novo frameshift variant, which had not been reported in the literature before. Conclusion: We summarized the main clinical and phenotypic features of patients described in the literature, and in addition, we discuss another feature found in our patient and observed in other cases described, eye asymmetry, which has never been highlighted, and suggest that it could be part of the typical clinical presentation of this condition.

show abstract

De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

Bertrand,

Shah,

Pedersen

et al. 2024

Mol Syndromol

View full text Add to dashboard Cite

Introduction: Xia-Gibbs syndrome (XGS) is a rare syndromic disorder characterized by developmental delay with intellectual disability, muscular hypotonia, brain anomalies, and nonspecific dysmorphic features. Different heterozygous variants in AHDC1 have been reported as causal for XGS, comprising mainly de novo stop-gain and frameshift events, but also missense variants, deletions, and a duplication of the locus. Case Presentation: We hereby report 2 patients with clinical features of XGS. In the first patient, a de novo interstitial deletion in 1p36.11p35.3 encompassing the entire coding region of AHDC1 was initially suspected by trio exome sequencing and subsequently confirmed by shallow genome sequencing. In the second patient, a de novo deletion comprising most of the 5′ untranslated region of AHDC1 was detected by genome sequencing. Conclusion: We identified the smallest deletion comprising AHDC1 reported so far by shallow genome sequencing as well as another small AHDC1 deletion by genome sequencing. These methods represent useful techniques for the identification and confirmation of small deletions and structural variants. Furthermore, our data provide additional evidence of AHDC1 haploinsufficiency as a disease mechanism in XGS. Clinically, foot deformity, skin and connective tissue abnormalities observed in one of the patients are consistent with other reported cases of XGS. These findings suggest that these manifestations could be considered as more prevalent characteristics, underscoring the importance of in-depth phenotyping.

show abstract

Xia-Gibbs Syndrome: A Rare Case Report of a Male Child and Insight into Physiotherapy Management

Cited by 19 publications

References 12 publications

Xia-Gibbs Syndrome: A Review of Literature

Xia-Gibbs Syndrome: A Review of Literature

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature

<i>De novo</i> <i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

Contact Info

Product

Resources

About