Sotos syndrome: An interesting disorder with gigantism

Nalini, A; Biswas, Anup

doi:10.4103/0972-2327.42941

Cited by 5 publications

(6 citation statements)

References 15 publications

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“…As there was no affliction of carpal bone, distal long bone or camptodactyly weavers was an unlikely possibility and thus he was diagnosed to have Sotos syndrome. 1,2,9 They have known to have spectrum of behavioral disorders like very low frustration tolerance, oppositional defiant traits, inattention etc.…”

Section: Discussionmentioning

confidence: 99%

Sotos syndrome with developmental co-ordination disorder; report of a case

Gajre

Mhatre

Vijaykumar

2015

Journal of Taibah University Medical Sciences

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Sotos syndrome (Cerebral Gigantism) a rare genetic disorder is usually characterized by macrocephaly and typical facial gestalt. There is a spectrum of behavioral and cognitive problems associated with it. We present a case of 11-year-old boy who presented with coordination issues, academic difficulties along with host of behavioral problems. On examination he was tall and had macrocephaly with typical facial gestalt. His educational assessment revealed the presence of developmental co-ordination disorder (DCD) which was confirmed by Bruininks Otseretsky Motor Proficiency (BOTMP) and developmental co-ordination disorder questionnaire (DCD e 2007). On further assessment he also had an element of attention deficit hyperactivity disorder (ADHD) for which he was started on methylphenidate. In view of presence of both ADHD and DCD we used a multipronged approach while treating him; both medical and behavioral therapies were used. Although Sotos syndrome is well described in literature and known to be associated with several behavioral disorders, we couldn't find any previously reported association with DCD.

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Section: Discussionmentioning

confidence: 99%

Sotos syndrome with developmental co-ordination disorder; report of a case

Gajre

Mhatre

Vijaykumar

2015

Journal of Taibah University Medical Sciences

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“…Soto's syndrome also known as cerebral gigantism is a rare disorder of growth and development with characteristic facial gestalt, non-progressive neurologic disorder, and normal endocrine function (Nalini A 2008). Aapproximately, 1 in 5,000 or 0.02% of 4,400 people in the United States have Soto's syndrome which includes reported cases and undiagnosed cases.…”

Section: Discussionmentioning

confidence: 99%

“…From our MEDLINE search, the exact prevalence still remains doubtful. It is a non-hormone mediated accelerated growth disorder, which mimics pituitary gigantism, but with no neuro endocrine dysfunction (Hook EB 1967;Nalini A 2008).Large birth size with marked linear growth in the first few years of life, advanced bone age, and developmental delay are major diagnostic features in the syndrome- (Cole TR et al 1994). Our patient had typical clinical features with additional associations.…”

Section: Discussionmentioning

confidence: 99%

“…The patho-physiology is not well understood, although it is attributed to disordered collagen and elastin synthesis, (Douglas et al 2003;Nalini and Biswas, 2008).The four major diagnostic criteria were established in 1994 by Cole and Hughes (1994) based on the systematic assessment of 41 typical cases: overgrowth with advanced bone age macrocephaly, characteristic facial appearance, and learning difficulties. (Geneviève Baujat 2007;Cole TR 1994).…”

Section: Discussionmentioning

confidence: 99%

“…This syndrome is described by accelerated linear growth during early childhood and is associated with craniofacial and physical abnormalities, which may include macrodolichocephaly, scoliosis, and enamel hypoplasia (Inokuchiet al 2001;TattonBrown and Rahman 2004;Baujat and Cormier-Daire 2007;Nalini and Biswas 2008). The cause of Soto's syndrome remains unknown, but most often, it occurs sporadically, though occasional cases with autosomal dominant inheritance have been reported (Winship 1985) Ocular manifestations of Soto's syndrome that have been published before include megalocornea, iris hypoplasia, cataracts, Koenekoop et al 1995).…”

Section: Introductionmentioning

confidence: 99%

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Rare Eye Findings in a Case of Sotos Syndrome

Shatriah¹,

Azmi²,

Hussein³

et al. 2013

IJCRM

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Objective: To report uncommon eye findings in a case of Soto's Syndrome. Method: Case reportResults: A 10-year-old girl with underlying Soto syndrome under multidisciplinary care presented with a history of bilateral, painless and progressive blurring of vision for 1 year. On examination, she had accelerated linear growth, dysmorphicfacies, macrodolichocephaly, hypertelorism and cognitive impairment. Anterior segment examination revealed bilateral anterior polar cataract and bilateral keratoconus. Conclusion:What this case highlights is that in addition to the classic features of Soto's syndrome, we found two rare ocular associations in this patient;-_namely, polar cataract and keratoconus. These new additions to the constellation of ocular manifestations of Sotos syndrome serve as a reminder that an ophthalmological evaluation should be a part of the basic workup of children with Sotos syndrome.

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The goniomaxillar length/goniomandibular length ratio in normal newborn infants: A clinical tool for defining chin position abnormalities

Mimouni

Merlob

Mimouni

et al. 2020

American J of Med Genetics Pt A

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Retrognathia (recessed chin) and prognathism (prominent chin) often present as signs of an underlying condition. Accurate clinical definitions are important. Yet their definitions were according to “clinical impression”, or to seldom used X‐ray criteria. We propose a statistical and anthropometric definition of retrognathia and prognathism based upon the ratio between the goniomaxillar length (distance between the gonion at the mandible angle and the subnasale and the goniomandibular length (distance between the mandible angle and the most anterior point of the bony chin). We assumed that an increase in the ratio indicates retrognathia and a decrease reflects prognathism. We conducted a prospective, observational, anthropometric study in 204 consecutive healthy term infants. Measurements took place on the second day of life, using sliding calipers. Mean ± SD of goniomandibular length (5.1 ± 0.3 cm), goniomaxillar length (5.4 ± 0.3 cm), were calculated. All measurements correlated significantly with gestational age, and with infant birthweight. The mean ± SD goniomaxillar length/goniomandibular length ratio was 1.06 ± 0.05. We defined a normal ratio as being within 2 SD of the mean, that is, between 0.96 and and 1.16. This ratio correlated with neither gestational age nor with birthweight. We conclude that the goniomaxillar length/goniomandibular length ratio can be calculated whenever retro ‐ or prognathism is suspected. A ratio outside of the 95% confidence interval should help in making this diagnosis. An increase in this ratio beyond 2 SD above the mean (1.16) could be interpreted as retrognathia and a decrease beyond 2 SD below the mean (0.96) as prognathism.

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Sotos syndrome: An interesting disorder with gigantism

Cited by 5 publications

References 15 publications

Sotos syndrome with developmental co-ordination disorder; report of a case

Sotos syndrome with developmental co-ordination disorder; report of a case

Rare Eye Findings in a Case of Sotos Syndrome

The goniomaxillar length/goniomandibular length ratio in normal newborn infants: A clinical tool for defining chin position abnormalities

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