P Ozyavuz Cubuk,L Ho,B Reversade et al.
P Ozyavuz Cubuk et al.
Matthew-Wood syndrome (MWS), also termed Microphthalmia, syndrome 9 (MCOPS9, MIM 601186), Spear syndrome, or pulmonary hypoplasia, diaphragmatic hernia, anophthalmia and cardiac defects syndrome (PDAC syndrome), is an autosomal recessive di...
COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE [0.03%]
维生素B12C缺乏伴婴儿痉挛及皮肤表现：一例独特病例报告
Z Öztürk,E Arhan,K Aydin et al.
Z Öztürk et al.
Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life ...
A NEW ISOLATED 20q INTERSTITIAL DUPLICATION CASE AND ITS CLINICAL COMPARISON WITH SIMILAR ISOLATED CASES [0.03%]
一例新的孤立的20q插件重复病例及与类似病例的临床比较
A H Cebi,G Karaguzel,M Karakus et al.
A H Cebi et al.
Duplications of 20q are rare. Here we report a 15 years old boy with de novo duplication of 17.1 Mb at chromosome 20q. We made a comparison with the other isolated 20q duplication cases. There are phenotypic similarities between the patient...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(3):393-397. DOI: 2016
SUBMICROSCOPIC DUPLICATION OF 8q24.3 REGION IS A POTENTIAL CANDIDATE FOR DISORDERS OF SEX DEVELOPMENT [0.03%]
8q24.3区亚微核苷酸重复可能是性别发育障碍的候选原因
F N Dilek,E F Perçin,H Kayserili et al.
F N Dilek et al.
Some of the disorders of sex development (DSD), including 46, XX testicular DSD formerly called "XX maleness" and 46, XY DSD with partial or complete gonadal dysgenesis primarily affect the gonads. Genetic alterations in ten unrelated femal...
T Atik,M S Güvenç,H Onay et al.
T Atik et al.
Feingold syndrome (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, microcephaly, facial dysmorphism, gastrointestinal atresias such primarily as oesophageal and/or duodenal atresia and mild to...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(3):381-384. DOI: 2016
MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE [0.03%]
GMII患儿骨骼畸形类似佝偻病及GNPTAB基因新突变的报道
B G Nur,Y Erdogan,Y Curek et al.
B G Nur et al.
Mucolipidosis II or I-cell disease is a rare lysosomal enzyme hydrolase trafficking due to deficient activity of the multimeric enzyme UDP-Nacetylglucosamine-l-phosphotransferase. It is a severe inborn error of lysosomal storage that causes...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(3):373-380. DOI: 2016
AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM [0.03%]
婴儿Joubert综合征及相关疾病的不常见表现：垂体激素缺乏症
S Erol,N Demirel,A Y Bas et al.
S Erol et al.
The Joubert syndrome is characterized by hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment. The molar tooth sign is the pathognomonic midbrain-hindbrain malformation for Joube...
TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME [0.03%]
两个不同的癫痫类型及形态异常特征的17q21.31微缺失综合征病例报告
E Uctepe,D Aktas,M Alikasifoglu et al.
E Uctepe et al.
The 17q21.31 microdeletion syndrome is characterized by intellectual disability, epilepsy, facial dysmorphism and friendly behavior. Recently, KANSLJ gene has been considered as a major causal gene for this phenotype. Here we report on two ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(3):357-365. DOI: 2016
ICHTHYOSIS LINEARIS CIRCUMFLEXA: NOT ALWAYS A PART OF NETHERTON SYNDROME [0.03%]
圈状线状鱼鳞病：并不总是奈特尔顿综合征的一部分
S Gunes Bilgili,A S Karadag,O Calka et al.
S Gunes Bilgili et al.
Ichthyosis Linearis Circumfiexa (ILC) is a rarely seen autosomal recessive keratinization disorder and is characterized by erythematous, polycystic, plaques with 'double-edged' scales. Its histological features resemble psoriasis. A triad o...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(3):353-356. DOI: 2016
C Stoll,Y Alembik,B Dott et al.
C Stoll et al.
Infants with limb reduction deficiencies (LRD) often have other associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in a defined population. The associated an...