Download Atlas of X-Linked Intellectual Disability Syndromes by Roger E. Stevenson PDF

By Roger E. Stevenson

The Atlas of X-Linked highbrow incapacity Syndromes is a accomplished and updated precis of the clinically special issues brought on by genes at the X chromosome. medical and laboratory information on one hundred fifty syndromes are awarded in a concise and constant demeanour. each one syndrome is outlined and knowledge is supplied on somatic good points, development and improvement, neurological indicators, cognitive functionality, imaging and different laboratory findings, and while attainable, the character and localization of the dependable gene. Craniofacial and different somatic findings are commonly illustrated. A differential matrix accompanies every one syndrome description to aid the reader in deciding on different X-linked syndromes with overlapping gains. person syndrome entries are supplemented with nineteen appendices that establish syndromes with universal positive factors and supply the positioning or mapping limits and serve as of the in charge genes.

The authors have large event within the scientific and laboratory delineation of X-linked highbrow incapacity. they've got defined new syndromes, domestically mapped sickness loci at the X chromosome, and pointed out the genes chargeable for X-linked syndromes.

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J Med Genet 28:738, 1991. : Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am J Med Genet 110:243, 2002. ATL AS OF X-LINKED INTELLEC TUAL DISABILIT Y SY NDROMES D I F F E R E N T I A L M AT R I X Microcephaly Hypotonic Facies Urogenital Anomalies Alpha-Thalassemia Intellectual Disability (ATRX-Associated XLID) + + + Short stature, telecanthus, small triangular nose, tented upper lip, open mouth, wide spacing of teeth, genital anomalies, musculoskeletal anomalies, hemoglobin H inclusions in erythrocytes Proud (ARX-Associated XLID) + + + Hearing loss, vision loss, agenesis of corpus callosum, cryptorchidism, inguinal hernias, ataxia, spasticity, seizures Coffin-Lowry + + 0 Short stature, hypertelorism, anteverted nares, tented upper lip, prominent lips and large mouth, large ears, soft hands with tapered digits, pectus carinatum Miles-Carpenter + + 0 Short stature, ptosis, small palpebral fissures, open mouth, pectus excavatum, scoliosis, long hands, camptodactyly, rockerbottom feet, arch fingerprints, spasticity, unsteady gait Smith-Fineman-Myers + + 0 Ptosis, flat philtrum, scoliosis, midfoot varus, narrow feet, seizures, hypotonia Vasquez + 0 + Short stature, gynecomastia, obesity, hypotonia, hypogonadism XLID-Hypogonadism-Tremor + 0 + Short stature, prominent lower lip, muscle wasting of legs, abnormal gait, hypogonadism, obesity, seizures, tremor XLID-Hypospadias + 0 + Trigonocephaly, synophrys, beaked nose, dysplastic ears, joint hyperextensibility, hypotonia XLID-Microcephaly-Testicular Failure + 0 + Short stature, prominent supraorbital ridges, high nasal bridge, prominent nose, macrostomia, hypogonadism XLID-Psoriasis 0 + + Hypertelorism, strabismus, large ears, macrostomia, psoriasis, seizures Syndrome Comments A L P H A -T H A L A S S E M I A I N T E L L E C T U A L D I S A B I L I T Y (S E E A L S O AT R X- A S S O C I AT E D X L I D) 19 AP1S2-ASSOCIATED XLID (MR X59, A P1S2 SPEC T RUM, T URNER X L ID SY NDROME, F RIED SY NDROME, X L ID - H Y DROCEPHALY- BA SAL G A NGL IA CALCIF ICAT ION) O M IM 30 06 30 with four affected males with similar degree of disability and hypotonia, but without microcephaly and less frequent speech limitations and aggressive outbursts, was included in the report of Tarpey et al.

Most do not develop meaningful speech and motor skills are markedly impaired. Laboratory. A mild microcytic anemia may be present. Inclusions in erythrocytes stained with brilliant cresyl blue for hemoglobin H (β 4 tetramers) or hemoglobin electrophoresis offer convenient methods for screening for AlphaThalassemia Intellectual Disability syndrome. However, many cases do not have significant enough levels of HbH to be detected by electrophoresis and erythrocyte inclusions may be rare, necessitating repeated screening.

REFERENCES Malamud N, Cohen P: Unusual form of cerebellar ataxia with X-linked inheritance. Neurology 8:261, 1958. Schmidley JW, Levinsohn MW, Manetto V: Infantile X-linked ataxia and deafness: A new clinicopathologic entity? Neurology 37:1344, 1987. D I F F E R E N T I A L M AT R I X Syndrome Ataxia Hearing Loss Vision Loss Ataxia-Deafness-Dementia, X-linked + + + Optic atrophy, spastic paraplegia, hypotonia, childhood death Arts + + + Growth deficiency, poor muscle development, hypotonia, areflexia, seizures, childhood death Gustavson + + + Microcephaly, short stature, optic atrophy with blindness, large ears, joint contractures, rockerbottom feet, brain undergrowth, hydrocephaly, cerebellar hypoplasia, spasticity, seizures Mohr-Tranebjaerg + + + Neurologic deterioration with childhood onset, dystonia, spasticity Proud (ARX-Associated XLID) + + + Microcephaly, agenesis of corpus callosum, cryptorchidism, inguinal hernias, spasticity, seizures Goldblatt Spastic Paraplegia + 0 + Optic atrophy, exotropia, nystagmus, spastic paraplegia, dysarthria, muscle hypoplasia, contractures Pelizaeus-Merzbacher + 0 + Optic atrophy, nystagmus, hypotonia, spasticity, dystonia, CNS dysmyelination Adrenoleukodystrophy 0 + + Adrenal insufficiency, diffuse skin pigmentation, spastic paraplegia, progressive neurologic deterioration and dementia, elevated long chain fatty acids in plasma Paine 0 + + Microcephaly, short stature, optic atrophy, spasticity, seizures Schimke 0 + + Microcephaly, sunken eyes, downslanting palpebral fissures, narrow nose, wide spacing of teeth, cupped ears, hypotonia, abducens palsy, spasticity, choreoathetosis, contractures Wittwer 0 + + Microcephaly, short stature, microphthalmia, hypertelorism, genitourinary anomalies, hypotonia, seizures ATA XIA-DE AFNESS-DEMENTIA, X-LINKED Comments 31 ATKIN-FL AITZ SYNDROME (AT K IN S Y NDROME ) O M I M 30 0 4 31 large, a finding noted also in nonaffected males.

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