Trisomy 13 (Patau syndrome) and craniosynostosis

Rosa, Rafael Fabiano Machado; Rosa, Rosana C. M.; Flores, José Antônio Monteiro; Chazan, Daniel T.; Dietrich, Cristine; Barth, Mariana Barth de; Carpes, Vanessa F.; Cunha, André Campos da; Graziadio, Carla; Zen, Paulo Ricardo Gazzola

doi:10.1002/ajmg.a.34086

Cited by 4 publications

(5 citation statements)

References 10 publications

(15 reference statements)

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“…Other frequent craniofacial findings observed in our study and commonly described in the literature include micrognathia, aplasia cutis/scalp defects (usually located in the apex of the head), microcephaly, and oral clefts (including lip and mainly palate clefts). Interestingly, trigonocephaly, due to the early closure of the metopic suture, has been associated with PS [Rosa et al, ], and it was observed in 13% of our patients, a rate similar to that reported by Hodes et al [] (11%). Plagiocephaly was described only in our study, in 7% of cases, one of which corresponded to the Patient 2 described by Rosa et al [], who presented early and partial closure of the coronal suture.…”

Section: Discussionsupporting

confidence: 88%

“…Interestingly, trigonocephaly, due to the early closure of the metopic suture, has been associated with PS [Rosa et al, ], and it was observed in 13% of our patients, a rate similar to that reported by Hodes et al [] (11%). Plagiocephaly was described only in our study, in 7% of cases, one of which corresponded to the Patient 2 described by Rosa et al [], who presented early and partial closure of the coronal suture. Facial palsy was found in 7% of our patients, and Lin et al [] described it in a frequency of less than 14%.…”

Section: Discussionsupporting

confidence: 88%

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Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

Petry¹,

Polli²,

Mattos

et al. 2013

American J of Med Genetics Pt A

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Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P<0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionsupporting

confidence: 88%

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

Petry¹,

Polli²,

Mattos

et al. 2013

American J of Med Genetics Pt A

Self Cite

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“…One individual in our cohort was diagnosed with large 9p deletion that includes the proposed critical region associated with trigonocephaly and that includes the PTPRD gene (Choucair et al, ; Mitsui et al, ). While craniosynostosis is not a well‐known feature of trisomy 13, it has been reported in the literature in cases of partial, mosaic, and complete trisomy 13, typically affecting the metopic suture, as was the case for the individual described here (Rosa et al, ). Craniosynostosis has also been infrequently reported in individuals with 22q11.2 deletion syndrome (McDonald‐McGinn et al, ; Ryan et al, ).…”

Section: Phenotype and Cytogenetic Abnormalities Detected In 10 Indivmentioning

confidence: 99%

Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis

Ittleman

Mckissick

Bosanko

et al. 2017

American J of Med Genetics Pt A

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Craniosynostosis is the premature ossification and fusion of one or more cranial sutures. It is one of the most common craniofacial anomalies, occurring in one in 2,000-2,500 births (Boulet, Rasmussen, & Honein, 2008). The multifactorial etiology of craniosynostosis involving both genetic and environmental factors results in a heterogeneous group of disorders (Heuze, Holmes, Peter, c Denominator represents those with phenotypic features described. ITTLEMAN ET AL. | 489 and maxilla-facial computed-tomography (CT) scans revealed metopic craniosynostosis while his alkaline phosphatase levels were low (49, Normal 129-291 U/L). ALPL gene sequencing confirmed the clinical suspicion of hypophosphatasia (HPP) (compound heterozygous c.526G>A/c.1250A>G, p.(Ala176Thr)/p.(Asn417Ser)) and CVR was performed at 18 months of age prior to initiation of enzyme replacement therapy. Craniosynostosis is a known feature of HPP, particularly the infantile type (Mornet, 2007). Individual CS#50 was first evaluated in the neonatal period for craniofacial dysmorphism and skeletal anomalies. Radiographic images documented markedly advanced bone age, widening of the proximal and middle phalanges, and severe cervical spinal stenosis. This patient underwent CVR for sagittal suture synostosis and posterior laminectomies of C3-C4 for cervical stenosis at 2 and 4 years of age, respectively. Over time, the patient was noted to have a flat midface, prominent forehead, full lips, and shallow orbits. The clinical diagnosis of Marshall-Smith syndrome was made and while molecular cytogenetic microarray was normal, sequencing of the NFIX gene could not be conducted. Craniosynostosis was reported in 5/38 (13%) of patients with Marshall-Smith syndrome in a previous study (Shaw et al., 2010).The implications of genetic testing have impact on the surgeon's discussion with the family prior to discussing surgical repair. It is well known, for example, that children with syndromic craniosynostosis tend to have higher relapse rates of their cranial dysmorphology, increased intra-cranial pressure and higher re-operative rates that their non-syndromic cohorts (Esparza et al., 2008;McCarthy et al., 1995). In agreement with a previous report of a large cohort of children with surgically repaired craniosynostosis, in this study, when comparing individuals with proven syndromic craniosynostosis to all others, there was a higher rate of multiple sutures affected (70 vs. 17%, p = < 0.000001) and need for several surgical procedures (48 vs. 25%, p = < 0.05), most of which were invasive ( Supplementary Table S3) (Wilkie et al., 2010). Likewise, the overall rates of suspicion for syndromic craniosynostosis (56/139, 40%) and identified underlying genetic diagnoses (27/56, 48%) are comparable to previous data by Wilkie et al. (2010) of 37% (122/326) and 60% (73/122), respectively. The present study does have some limitations. While a systematic evaluation was conducted by the initial provider evaluating the individual with craniosynostosis, a genetic evaluation was not ...

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“…The major detected malformations of the central nervous system were holoprosencephaly, cerebellar changes, corpus callosum agenesis and hydrocephalus. Nonetheless, there are other factors that indicate this syndrome [1,9,10]. The clinical findings show that, from 50 to 80% can show apnea and tremors, microphthalmia, cleft lip and palate, polydactyly, congenital heart disease, epicanthic fold, deafness, micrognathia, excess skin on the neck or short neck, capillary hemangiomas, long and hyperconvex fingernails, retroflexible thumbs, flexion deformity of the fingers, single palmar crease, halucal standard tibial strap, prominent calcaneus, hypotonia, plus many other findings also described [5,9,10].…”

Section: Introductionmentioning

confidence: 99%

“…Nonetheless, there are other factors that indicate this syndrome [1,9,10]. The clinical findings show that, from 50 to 80% can show apnea and tremors, microphthalmia, cleft lip and palate, polydactyly, congenital heart disease, epicanthic fold, deafness, micrognathia, excess skin on the neck or short neck, capillary hemangiomas, long and hyperconvex fingernails, retroflexible thumbs, flexion deformity of the fingers, single palmar crease, halucal standard tibial strap, prominent calcaneus, hypotonia, plus many other findings also described [5,9,10]. Only 5% of the cases survive more than three years [11], and on literature, there are few described cases of children that survive beyond that age [4,[12][13][14][15][16].…”

Section: Introductionmentioning

confidence: 99%

Adaptive Behavior and Family Burden in Patau Syndrome: Case Report

2016

J Neurol Psychol

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The Patau syndrome is a rare autosomal trisomy, characterized by the fetal malformations involving the central nervous system, among others. The phenotype of Patau syndrome causes impact on families by the vulnerability and involvement in the child's life by changing the lifestyle, emotional balance and interpersonal relationships. This study aimed to investigate the literature, empirical studies of the syndrome, related to the development, and describe the clinical of a child with that diagnosis, female, with 04 years and 11 months, relating to maternal level of overload. The evaluation of the development was instrumented by the Vineland Adaptive Behavior Scale and overload by Bourden Interview Scale. The results showed damage in all areas of development, with relevance for communication and autonomy. The absence of high overload was suggestive of that family support may have mitigated the impact of care and reflected positively on the caregiver quality of life.

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Trisomy 13 (Patau syndrome) and craniosynostosis

Cited by 4 publications

References 10 publications

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis

Adaptive Behavior and Family Burden in Patau Syndrome: Case Report

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