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1.
[Rubinstein-Taybi broad thumb-hallux syndrome].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 595-7, 2001.
Article in Japanese | MEDLINE | ID: mdl-11528915

Subject(s)
Rubinstein-Taybi Syndrome , Female , Humans , Male
2.
[Short rib-polydactyly syndrome, types I, II, III, IV].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 627-8, 2001.
Article in Japanese | MEDLINE | ID: mdl-11528933

Subject(s)
Short Rib-Polydactyly Syndrome , Humans
3.
[SPONASTRIME dysplasia].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 677-8, 2001.
Article in Japanese | MEDLINE | ID: mdl-11528960

Subject(s)
Nose/abnormalities , Spine/abnormalities , Adolescent , Dwarfism , Female , Humans , Limb Deformities, Congenital , Male , Syndrome
4.
[Tubular stenosis].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 764, 2001.
Article in Japanese | MEDLINE | ID: mdl-11529012

Subject(s)
Bone Diseases, Developmental , Dwarfism , Humans , Infant , Infant, Newborn , Syndrome
5.
[Turcot syndrome].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 765-6, 2001.
Article in Japanese | MEDLINE | ID: mdl-11529013

Subject(s)
Adenomatous Polyposis Coli , Central Nervous System Neoplasms , Glioma , Medulloblastoma , Adolescent , Female , Humans , Male , Syndrome
6.
[Twins, conjoined].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 771-2, 2001.
Article in Japanese | MEDLINE | ID: mdl-11529016

Subject(s)
Twins, Conjoined , Female , Humans , Infant, Newborn , Male
7.
[Umbilical cord].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 776-7, 2001.
Article in Japanese | MEDLINE | ID: mdl-11529018

Subject(s)
Umbilical Cord/abnormalities , Female , Humans , Infant, Newborn , Pregnancy
8.
[Urofacial syndrome].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 782-3, 2001.
Article in Japanese | MEDLINE | ID: mdl-11529021

Subject(s)
Facies , Urinary Bladder, Neurogenic , Female , Humans , Male , Syndrome , Urinary Tract Infections , Urination Disorders
9.
[Usher syndrome].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 784-5, 2001.
Article in Japanese | MEDLINE | ID: mdl-11529022

Subject(s)
Hearing Loss, Sensorineural , Retinitis Pigmentosa , Adolescent , Adult , Child , Child, Preschool , Humans , Syndrome
10.
[Young-Simpson syndrome].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 837-8, 2001.
Article in Japanese | MEDLINE | ID: mdl-11529049

Subject(s)
Abnormalities, Multiple , Congenital Hypothyroidism , Child , Child, Preschool , Facies , Female , Heart Defects, Congenital , Humans , Infant , Infant, Newborn , Intellectual Disability , Male , Muscle Hypotonia , Syndrome
11.
[Arachnodactyly, contractural Beals type].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (33): 216-7, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462407

Subject(s)
Marfan Syndrome , Humans
12.
[AREDYLD syndrome].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (33): 218, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462408

Subject(s)
Diabetes Mellitus, Lipoatrophic , Ectodermal Dysplasia , Kidney Pelvis/abnormalities , Abnormalities, Multiple , Adult , Female , Humans
13.
[Arrhythmia, with long QT interval without deafness].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (33): 221-2, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462410

Subject(s)
Arrhythmias, Cardiac/congenital , Long QT Syndrome/congenital , Female , Humans , Male
14.
[Arrhythmia, Wolff-Parkinson-White type].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (33): 223-4, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462411

Subject(s)
Wolff-Parkinson-White Syndrome/congenital , Humans
15.
[Arterio-hepatic dysplasia].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (33): 225-6, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462412

Subject(s)
Alagille Syndrome , Humans
16.
[Asphyxiating thoracic dysplasia].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (33): 232-3, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462415

Subject(s)
Respiratory Insufficiency/etiology , Thorax/abnormalities , Humans
17.
[Asplenia syndrome].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (33): 234-5, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462416

Subject(s)
Heart Defects, Congenital , Spleen/abnormalities , Humans , Syndrome
18.
[Molecular cytogenetic diagnosis of congenital malformation syndromes].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (33): 34-40, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462465

Subject(s)
Congenital Abnormalities/diagnosis , Genetic Techniques , Humans
19.
[Chondroectodermal dysplasia].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (33): 375-6, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462482

Subject(s)
Ellis-Van Creveld Syndrome , Aged , Aged, 80 and over , Female , Humans , Infant , Male
20.
[Cleidocranial dysplasia].
Masuno, M.
Ryoikibetsu Shokogun Shirizu ; (33): 461-2, 2001.
Article in Japanese | MEDLINE | ID: mdl-11462517

Subject(s)
Cleidocranial Dysplasia , Humans
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