P H Vanlieferinghen,C Borderon,C H Francannet et al.
P H Vanlieferinghen et al.
Here we present a new case of Johanson-Blizzard Syndrome. Clinical features consistent with the diagnosis of Johanson-Blizzard Syndrome in a term neonate are described: intra-uterine growth retardation, aplasia of the nasal alae, midline sc...
Severe hypernatremic dehydration in an infant with Netherton syndrome [0.03%]
Netherton综合征婴儿严重高钠性脱水病例报告
C Stoll,Y Alembik,D Tchomakov et al.
C Stoll et al.
Netherthon syndrome is a rare autosomal recessive disease characterized by ichthyosis, the characteristic hair abnormality trichorrhexis invaginata and atopic manifestations. We report a female child with the severe hypernatremic dehydratio...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):237-43. DOI: 2001
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism [0.03%]
具有环状软骨狭窄和小阴茎的Pallister-Hall综合征而无垂体功能减退症
C Stoll,A De Saint Martin,L Donato et al.
C Stoll et al.
The Pallister-Hall syndrome is characterised by a spectrum of anomalies including congenital hypothalamic "hamartoblastoma" hypopituitarism, imperforate anus, polydactyly and various visceral anomalies. Rare familial cases with an autosomal...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):231-5. DOI: 2001
Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy [0.03%]
常染色体隐性遗传型肢带型肌营养不良复合杂合子家系的分子诊断及遗传咨询
M R Dos Santos,E M Vieira,M Reis Lima
M R Dos Santos
The present report concerns two patients, male and female siblings, manifesting a different degree of severity for the same autosomal recessive limb-girdle muscular dystrophy. The index case (male sib) carried the clinical diagnosis of Beck...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):223-9. DOI: 2001
T Lukusa,D Willekens,N Lukusa et al.
T Lukusa et al.
A 10-year-old mentally retarded boy with terminal 6q25 deletion, dysmorphism and striking abnormal behaviour is reported. The main abnormal physical features recorded at different ages consisted of hydrocephalus, axial hypotonia, absence of...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):213-21. DOI: 2001
Anophthalmia/microphtalmia associated with right lateral facial cleft/microtia [0.03%]
眼耳面畸形综合征伴有小眼症及外耳畸形
J P Fryns,I Witters
J P Fryns
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(2):177-8. DOI: 2001
Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1 in a French family [0.03%]
法国一个家族的脊小脑性共济失调1型的前症状检测
G Lucotte,O Sémonin,G Mercier
G Lucotte
A Geneix,J Goburdhun,C Fallet et al.
A Geneix et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(2):169-71. DOI: 2001
Prenatal diagnosis and false negative result for a case of Down syndrome with normal karyotype [0.03%]
染色体核型正常唐氏儿妊娠的产前诊断及假阴性原因分析
L A Lizcano-Gil,K Burgos,D F Guarin
L A Lizcano-Gil
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(2):167-8. DOI: 2001
C E de Die-Smulders,U Moog,J J Engelen et al.
C E de Die-Smulders et al.
A female new-born with bilateral lateral facial clefts, resulting in macrostomia, is reported. In addition she had a diminished palpebral fissure length. She died suddenly at the age of 6 months, presumably due to respiratory insufficiency....
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(2):163-5. DOI: 2001