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Differential
(Click to cross reference)
adverse drug reaction
aneurysm, intracranial
areflexia
basal ganglia, calcification of
behavioral disorder
cachexia
calcification, intracranial
cardiomyopathy
caries
cataracts
children
chorionic gonadotropin
chromosomal abnormality
Cockayne's syndrome
complications
congenital heart disease
congenital heart disease, CNS complications with
contractures, joint
cry, weak
cryptorchidism
developmental retardation
differential diagnosis
drug induced neurologic disorders
dysmorphic
ear, abnormal
echocardiogram
eyes, sunken
facial anomalies
facial appearance, abnormal
familial
feeding disorder
genetic counselling
genetic neurologic disorders
growth retardation
gynecomastia
head circumference
hearing loss
hemorrhagic diathesis
hepatosplenomegaly
high arched palate
hypertelorism
hypertrophic cardiomyopathy
hypogonadism
hypotonia
hypotonia, infants
infertility
intellectual deficit
intracranial hypertension, benign
joint hypermobility
Klinefelter's syndrome
learning disability
mental retardation
micrognathia
misdiagnosis
mortality
MRI, abnormal
neck, webbed
neurologic disease, diagnoses of
Noonan Syndrome
obesity
optic neuropathy
osteoporosis
pectus excavatum
penis, small
photosensitivity, skin
pigmentary retinopathy
polyhydramnios
Prader-Labhart-Willi syndrome
precocious puberty
psychomotor retardation
puberty, delayed
pulmonary stenosis
rash
retinopathy
review article
seizure
seizure, children
seizure, injury following
sensorineural hearing loss
short stature
skin, lesions in neurologic disorders
stooped posture
testosterone
tremor
valvulopathy
visual impairment
vomiting, recurrent
white matter disease
Showing articles 0 to 33 of 33

Clinical Features, Diagnosis and Management of Klinefelter Syndrome
www.UptoDaate.com, Matsumoto,A.M. & Anawals,B.D., 2024

Pseudotumor Cerebri Following Beta-Human Chorionic Gonadotropin Hormone Treat for Undesc Testicles
Neurol 43:448-449, Haller,J.S.,et al, 1993

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992

Prader-Willi-Syndrome, In Endocrine & Genetic Diseases of Childhood & Adolescence
(Ed) , 1975. W. B. Saunders Co, p, Gardner,L.I., 1975

Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024

A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016

Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
NEJM 368:1992-2003, Margolin, D.,et al, 2013

Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010

Prolactinomas
NEJM 362:1219-1226, Klibanski,A., 2010

A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010

Sarcoidosis: Clinical, Hormonal, and Magnetic Resonance Imaging (MRI) Manifestations of Hypothalamic-Pituitary Disease in 9 Patients and Review of the Literature
Medicine 86:259-268, Bihan,H.,et al, 2007

Late-Onset Cerebellar Ataxia with Hypogonadism and Muscle Coenzyme Q10 Deficiency
Neurol 62:818-820, Gironi,M.,et al, 2004

Prolactinoma
NEJM 349:2035-2041, Schlechte,J.A., 2003

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Diagnosis and Management of Pituitary Tumours
BMJ 308:1087-1091, Levy,A.&Lightman,S.L., 1994

Hypothalamic-Pituitary Dysfunction after Radiation for Brain Tumors
NEJM 328:87-94, Constine,L.S.,et al, 1993

Cortically Evoked Motor Responses in Patients with Xp22. 3-Linked Kallmann's Syndrome and in Female Gene Carriers
Ann Neurol 31:299-304, Danek,A.,et al, 1992

Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
NEJM 326:1752-1755, 17751992., Bick,D.,et al, 1992

Accelerated Aging of the Brain in Werner's Syndrome
Neurol 42:922-924, Kakigi,R.,et al, 1992

X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome) A Kindred with Hypobetalipoproteinemia
Arch Neurol 47:1117-1120, Warner,C.L.,et al, 1990

Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990

Neurologic Findings in Men with Isolated Hypogonadotropic Hypogonadism
Neurol 39:223-226, Schwankhau,J.D.,et al, 1989

Syndrome of Cerebellar Ataxia and Hypogonadotrophic Hypogonadism:Evidence for Pituitary Gonadotrophin Deficiency
JNNP 52:407-409, Fox,A.C.K.,et al, 1989

Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983

Isolated CNS Sarcoidosis
JAMA 245:62-63, Cariski,A.T., 1981

Myotonic Dystrophy
In Harrison's Principles of Internal Medicine, 9th Ed, McGraw-Hill Book Co, NY 206180., Adams,R.D.,et al, 1980

Abnormal Iris Vasculature in Myotonic Dystrophy
Arch Neurol 35:224, Stern,L.Z.,et al, 1978

Prolactin-Secreting Tumors & Hypogonadism in 22 Men
NEJM 299:847-852, Carter,J.N.,et al, 1978

Adrenomyeloneuropathy:A Probable Variant of Adrenoleukodystrophy
Neurol 27:1107-1113, Griffin,J.W.,et al, 1977

The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968



Showing articles 0 to 33 of 33