Symptoma

Cree Mental Retardation Syndrome

Particular clinical presentations of neurometabolic disorders include ataxias, movement disorders, childhood epilepsies, or peripheral neuropathy. [oxfordmedicine.com]

Furthermore, a prominent nasal bridge is present in the neonate and may aid diagnosis at this stage. [journals.lww.com]

Although most leukodystrophies produce symmetric pyramidal tract signs, in particular spasticity, the clinical presentation may be variable, especially in adults. [neurology.org]

[…] development, behavioral function, and retinal function are closely followed in SLOS patients on this protocol.Additionally, there are two areas of research focus for this protocol:1) It is now known that patients at the very mild end of the SLOS spectrum may present [grantome.com]

Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes. Gene. 2013 Mar 14. [Medline]. Brislin RP, Stayer SA, Schwartz RE. [emedicine.medscape.com]

  • Developmental Disabilities

    Epilepsy and developmental disabilities. In: Capute AJ, Accardo PJ, eds. Developmental Disabilities in Infancy and Childhood. 2nd ed. Baltimore, Md.: P.H. Brookes, 1996:511–20. 39. Hayashi Y, Hanada K, Horiuchi I, Morooka M, Yamatogi Y. [aafp.org]

    The successive classification systems developed by the American Association on Intellectual and Developmental Disabilities (AAIDD) also followed the timing approach. [emedicine.medscape.com]

    disabilities or congenital anomalies. [genomebiology.biomedcentral.com]

  • Prolapse

    ventricular and atrial septal defects Orthopedic: scoliosis Pulmonary: recurrent upper respiratory infection with otitis media Down syndrome Cardiac: adults without apparent congenital heart disease may have valvular disease including mitral valve prolapse [aafp.org]

  • Pterygium Colli

    colli-intellectual disability-digital anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Pure hereditary spastic paraplegia Pure or complex X-linked spastic paraplegia Pure or complex autosomal dominant spastic paraplegia Pure or complex [se-atlas.de]

  • Low Set Ears

    1 Clinical Features of Cree Mental Retardation Syndrome : Autosomal recessive inheritance Cryptorchidism Hypospadias Bifid scrotum Cleft soft palate Large fontanelles Brachycephaly Hypertelorism Triangular face Micrognathia Posteriorly rotated ears Low-set [familydiagnosis.com]

    Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears. Child with cri-du-chat syndrome. Note the hypertonicity, small and narrow face, dropped jaw, and open-mouth expression secondary to facial laxity. [emedicine.medscape.com]

  • Hypertelorism

    Symptoms and clinical features of the condition may include: 1 Clinical Features of Cree Mental Retardation Syndrome : Autosomal recessive inheritance Cryptorchidism Hypospadias Bifid scrotum Cleft soft palate Large fontanelles Brachycephaly Hypertelorism [familydiagnosis.com]

    Abstract We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas [wwww.unboundmedicine.com]

    Published in American journal of medical genetics 2002 DOI: 10.1002/ajmg.10136 We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism [semanticscholar.org]

    Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears. Child with cri-du-chat syndrome. Note the hypertonicity, small and narrow face, dropped jaw, and open-mouth expression secondary to facial laxity. [emedicine.medscape.com]

    […] syndrome) normophosphatemic familial tumoral calcinosis oculodigitoesophagoduodenal syndrome (Feingold syndrome) odontoonychodermal dysplasia oligodontia-colorectal cancer syndrome Opitz syndrome; Opitz GBBB syndrome, X-linked; Opitz syndrome type 1; hypertelorism-hypospadias [anvita.info]

  • Large Fontanel

    Symptoms and clinical features of the condition may include: 1 Clinical Features of Cree Mental Retardation Syndrome : Autosomal recessive inheritance Cryptorchidism Hypospadias Bifid scrotum Cleft soft palate Large fontanelles Brachycephaly Hypertelorism [familydiagnosis.com]

  • Cryptorchidism

    Symptoms and clinical features of the condition may include: 1 Clinical Features of Cree Mental Retardation Syndrome : Autosomal recessive inheritance Cryptorchidism Hypospadias Bifid scrotum Cleft soft palate Large fontanelles Brachycephaly Hypertelorism [familydiagnosis.com]

    Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism [se-atlas.de]

This protocol is the only site studying the effects of cholesterol treatment on retinal function in human patients with SLOS. [grantome.com]

Overview A diagnosis of intellectual disability (ID) carries with it certain unique treatment needs that must be understood and addressed. [emedicine.medscape.com]

Treatment is possible for some metabolic diseases. For instance, the devastating neurological effects of phenylketonuria have been recognized for many years. [oxfordmedicine.com]

Learning through fun and play FERGUS FALLS, MINNESOTA - JULY 04, 2015: Fergus Falls Regional Treatment Center is in National Register of Historic places. Closed 2005. [shutterstock.com]

We reviewed the literature and discussed the pathophysiology, differential diagnosis and treatment of this disorder. [content.iospress.com]

"What we know is that early diagnosis may mean a better prognosis, because it means we can put some interventions in place early on," says Julianne Conry, a psychologist at the University of British Columbia who assesses children for FAS. [come-over.to]

When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition. [emedicine.medscape.com]

The underlying molecular etiology remains unknown; therefore, prenatal diagnosis of recurrences depends on identification of the associated structural anomalies on second trimester ultrasound examination. [karger.com]

Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard. 2005;110(4):253-267. 54. Battaglia A, Bianchini E, Carey JC. [netce.com]

PubMed Google Scholar Betancur C: Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011, 1380: 42-77. [genomebiology.biomedcentral.com]

Although some etiologies of mental retardation may have associated behavioral phenotypes ( Table 4 ), 10 – 18 most challenging behaviors are caused by the same neuropsychiatric disorders that affect the general population 54 and respond to the same treatments [aafp.org]

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978 Nov 16. 44(3):227-75. [Medline]. Robinson WP, Dutly F, Nicholls RD, et al. The mechanisms involved in formation of deletions and duplications of 15q11-q13. [emedicine.medscape.com]

Epidemiologic features of the physical and sexual maltreatment of children in the Carolinas. Pediatrics. 2005;115(3):e331-337. 61. Bonnier C1, Nassogne MC, Saint-Martin C, Mesples B, Kadhim H, Sébire G. [netce.com]

Psychiatric disorders in Prader-Willi syndrome: epidemiology and management. CNS Drugs. 2003;17:167–78. 13. Dykens EM. Intervention issues in persons with Williams syndrome. Ment Health Aspects Dev Disabil. 2001;4:130–7. 14. [aafp.org]

We reviewed the literature and discussed the pathophysiology, differential diagnosis and treatment of this disorder. [content.iospress.com]

In recent years, the application of genetic molecular methods introduced advances in the diagnosis and typification of the cri-du-chat syndrome. [2] Pathophysiology See the list below: A partial deletion of the short arm of chromosome 5 is responsible [emedicine.medscape.com]

Certain pathophysiological states could arise due to mutation in any of a large number of different genes. [genomebiology.biomedcentral.com]

Many of the incidents are preventable, especially if parents and care-givers are aware of hidden hazards in the home and other child-care settings. The U.S. [health.gov]

Preventing abusive head trauma among infants and young children: a hospital-based, parent education program. Pediatrics. 2005;115(4):e470-e477. 39. Levin AV, Cordovez JA, Leiby BE, Pequignot E, Tandon A. [netce.com]

Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎ [books.google.es]

Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions. [emedicine.medscape.com]

But we can prevent some of the frustration and acting-out behaviour that makes people with FAS more susceptible to problems later on." [come-over.to]