Sotos Syndrome: A Case Report

Al-Humaidi, Mohammed A.

doi:10.5144/0256-4947.1994.514

Cited by 3 publications

(2 citation statements)

References 10 publications

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“…[8–10,14] Al Rashed et al [8] diagnosed his 14 cases based on clinical features, 8 Saudis, 3 Egyptians, 2 Sudanese, and 1 Syrian. Alhumaidi [9] described a patient with typical clinical features of Sotos syndrome with normal chromosomal studies. [11] A similar patient, described by Al-Mulla et al, [10] was clinically diagnosed as Sotos syndrome and treated for acute myelocytic leukemia.…”

Section: Discussionmentioning

confidence: 99%

Sotos syndrome

et al. 2018

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Rationale: Sotos syndrome is a rare genetic disorder characterized by rapid growth during infancy and childhood; ≥2 SD for height and head circumference; distinctive facial appearance and developmental delay. Ten clinically diagnosed cases have been reported from Saudi Arabia; none of them was genetically confirmed. Patient concerns: A male Saudi patient, who had a birth length and head circumference above 97th centile, presented with abnormal rapid growth, delayed motor and mental milestones, aggressive behavior, obsession to close doors, nail biting, defective attention, and hyperactivity. Diagnoses: Sotos syndrome was suspected Interventions: Molecular genetic analysis for NSD1 gene was carried for the patient. Outcomes: A novel heterozygous deletion of all exons 1 to 23 of the NSD1 gene was detected. Genetic counseling was carried for the family with extended genetic testing for the parents and his siblings with normal results. Lessons: Despite its worldwide distribution, Sotos syndrome may be under-reported. Besides its characteristic clinical picture, molecular genetic testing is also extremely recommended.

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Section: Discussionmentioning

confidence: 99%

Sotos syndrome

et al. 2018

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“…Não há diferença do retardo mental das crianças com síndrome de Sotos das crianças com deficiência mental (Melo et al, 2002). Uma das características principais da doença é o crescimento excessivo tanto pré como pós-natal, sendo comum, ao nascimento, verificar que a estatura aumenta mais que o peso e, durante a infância, há uma maturação óssea avançada (Alhumaidi, 2003). Com o decorrer da idade, pode haver redução da hipotonia e melhora na coordenação motora fina (Melo et al, 2002;Jones, 1998a).…”

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Síndrome de Sotos: Um Estudo de Caso

Cunha

Rodrigues

Guimarães

2005

RBM

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Este estudo destina-se a apresentar um caso de Síndrome de Sotos. Buscou-se relatar a resposta desta criança ao tratamento cinesiológico funcional, considerando as principais características como deficiência mental, hipotonia, distúrbios ortopédicos, estatura elevada, macrocefalia, incoordenação motora e déficit de marcha. Após 11 meses de acompanhamento, observou-se, com o tratamento cinesiológico funcional, melhora do equilíbrio, das habilidades motoras (coordenação), da marcha e da postura. Espera-se com este trabalho, além de apresentar as características da síndrome de Sotos juntamente com seu diagnóstico diferencial, relatar a importância da intervenção fisioterapêutica e do trabalho multidisciplinar envolvendo a psicologia e a fonoaudiologia.

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Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia

Rashed

Al‐Jarallah

Salih

et al. 1999

Annals of Tropical Paediatrics

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Fourteen children (of Arab ethnic origin) with Sotos syndrome are described. They were referred to King Khalid University Hospital, Riyadh between July 1992 and June 1997. Their phenotypic characteristics were compared with established diagnostic criteria. There was a male:female ratio of 1.3:1 and a high rate of consanguinity (36%) among parents. At birth, 54% were large and about one-third showed increased height and occipitofrontal head circumference (OFHC). The neonatal histories revealed respiratory and feeding problems in 21%, followed later by delayed motor milestones and speech development in 57%. During childhood, weight, height and OFHC increased further to > 97th centile in 71%, 71% and 93%, respectively. A seizure disorder affected 43%, and 75% had mental retardation (IQ < 70). A non-specific EEG abnormality was found in half of those with seizures. Cranial CT/MRI showed ventricular dilatation in 15% and one patient had corpus callosum dysgenesis. Abdominal ultrasound revealed hydronephrosis in two patients. Radiological cephalometric measurements showed relative prognathism in cases of Sotos syndrome compared with controls (p = 0.003). The study highlights the importance of considering Sotos syndrome in children who present with psychomotor delay.

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Sotos Syndrome: A Case Report

Cited by 3 publications

References 10 publications

Sotos syndrome

Sotos syndrome

Síndrome de Sotos: Um Estudo de Caso

Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia

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