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209 Possible Causes for Delayed Speech and Language Development, Dysmorphic Face, Scoliosis

  • Mucopolysaccharidosis

    The patient was a 17-year-old girl with growth retardation, hearing loss, and severe skeletal dysplasia(scoliosis and chicken breast), and was evaluated to have normal nervous[] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[] Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. Figure 3: shows X ray skull with calvarial thickening.[]

  • Prader-Willi Syndrome

    Speech and language therapy during childhood will help with impaired speech and delay in developing language.[] The literature dealing with scoliosis surgery in PWS consists of only few case reports.[] […] or language disorder 759.8 Other specified anomalies 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS References Jin, D.K. et al.[]

  • Mucopolysaccharidosis 2

    Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. Figure 3: shows X ray skull with calvarial thickening.[] […] visceral enlargement with hepatosplenomegaly (manifested by a protuberant abdomen); skeletal changes with metacarpal and vertebral processes evident on radiographs, and scoliosis[] Anteroposterior and lateral X-rays of the dorsolumbar spine showed anterior beaking at D12 and L1,2,3 with slender long pedicle and scoliosis at dorso lumbar spine with convexity[]

  • Pallister W Syndrome

    Scoliosis or curvature of the spine: This is a symptom that can occur as the individual with PWS grows.[] Dysmorphic features included a long face and nose with protruding nasal tip and short philtrum.[] Moreover, scoliosis developed despite the PHTR intervention. There is a high risk of developing scoliosis in hypotonic cases.[]

  • Alpha-Mannosidosis

    […] and language development are achieved late.[] […] features are immune deficiency (manifested by recurrent infections, especially in the first decade of life), skeletal abnormalities (mild-to-moderate dysostosis multiplex, scoliosis[] Mental and motor development is delayed, but in this context, the progressive course of AM has to be considered: Affected children often appear clumsy, and milestones in speech[]

  • Cleidocranial Dysplasia

    Speech and language may also need to be assessed by a speech pathologist. Genetic counseling may be of benefit for patients and their families.[] […] therapy, or progressive scoliosis after skeletal maturation.[] The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[]

  • Smith-Magenis Syndrome

    development Language development deficit Language delayed Language delay Impaired speech development Impaired speech and language development Delayed speech development Delayed[] Scoliosis is not uncommon among patients with SMS, and there is a potential association between congenital scoliosis and SMS.[] Facial dysmorphisms include broad and square-shaped face, mild face hypoplasia, brachicephaly, short nasal philtrum, a tendency toward an everted upper lip, and relative prognathism[]

  • Trisomy X Syndrome

    speech and language development, and difficulty reading Delayed motor skills, such as sitting and walking Problems processing sound Behavioral and emotional problems, including[] […] part of the eyes (epicanthal folds), weak, flaccid muscle due to poor muscle tone, small size of head in contrast to whole body size, sideways bending of the back bone (scoliosis[] Those affected appear to have higher rates of scoliosis. Females with triple X syndrome often have delayed language development.[]

  • Klinefelter Syndrome

    […] enlargement (gynecomastia) Learning disabilities Delayed speech and language development Reduced fertility or infertility Klinefelter syndrome is a genetic condition but[] Osteoporosis may lead to vertebral collapse and even scoliosis.[] Children with Klinefelter syndrome may have learning disabilities and delayed speech and language development.[]

  • Russell-Silver Syndrome

    Russell-Silver syndrome is also associated with an increased risk of delayed development, speech and language problems, and learning disabilities.[] […] manifestations were short stature (25 patients), limb-length discrepancy (23 patients), clinodactyly (19 patients) metacarpal bone and phalangeal abnormalities (13 patients), scoliosis[] […] and further dysmorphisms.[]

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