Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face [0.03%]
食道闭锁伴_thenar_发育不全和不对称哭泣面容综合征
Hatice Mutlu-Albayrak,Çağrı Damar,Gürkan Gürbüz
Hatice Mutlu-Albayrak
Asymmetric crying face (ACF) is a minor congenital anomaly that is often associated with a high rate of major malformations and may be considered an indication of a syndromic clinical presentation. Here, we report a 21-month-old male presen...
Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report [0.03%]
新型HIVEP2变异体p.Q1248与发育迟缓相关：一例报告
Angita Jain,Paldeep S Atwal
Angita Jain
In this report, we describe a 5-year-old boy with global developmental delay who presented for medical genetic evaluation. We performed whole exome sequencing that revealed the involvement of a heterogenous variant p.Gln1248Ter (CAG > TAG):...
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type [0.03%]
一例印度成人短肢异常钙化型软骨发育不全的新型DDR2纯合终止突变报告
Neerja Gupta,Alec Reginald Errol Correa,Manisha Jana et al.
Neerja Gupta et al.
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is a rare autosomal recessive disorder causing severe disproportionate short stature along with typical radiological features. We report an adult male patient with t...
Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis [0.03%]
由母源中间等臂二体导致的囊性纤维化患儿CFTR基因纯合子丢失变异
Flor Vásquez Sotomayor,Hugo Hernán Abarca-Barriga
Flor Vásquez Sotomayor
We report the first case in Peru of cystic fibrosis caused by a homozygous deletion of the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. A 10-month-old child who presented with meconium ileus and pancreatic insufficienc...
A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene [0.03%]
染色体13q21.31q33.1缺失合并EDNRB基因缺失的新生儿肠旋转不良伴先天性巨结肠病病例报告
Trassanee Chatmethakul,Rozaleen Phaltas,Gwen Minzes et al.
Trassanee Chatmethakul et al.
We report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented ...
A High Prevalence Rate of Tibia Hemimelia in a Subregion of West Azarbaijan, Iran [0.03%]
伊朗西阿塞拜疆省一个亚区胫骨半肢畸形的高发病率
Hasan Taleb,Ahmadreza Afshar,Isa Abdi Rad et al.
Hasan Taleb et al.
From 1995 to 2017 an abnormally high number of tibia hemimelia (TH) patients from the Maku subregion in the West Azarbaijan province of Iran were referred to our orthopedic department for treatment. Regarding the occurrence of TH in many fa...
Investigation of L - Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease [0.03%]
治疗枫糖尿病患者的左旋肉碱浓度调查研究论文报告摘要
Burcu Kumru,Burcu Oztürk Hismi
Burcu Kumru
Maple syrup urine disease (MSUD), also known as branched-chain α ketoaciduria, is a metabolic disorder caused by an inborn deficiency in the activity of the branched-chain α-ketoacid dehydrogenase complex. Severe neurological damage occur...
SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation [0.03%]
阿根廷队列中SHOX缺乏症：长期生长学随访及一个新的家族突变
Mariana Del Pino,Miriam Aza-Carmona,David Medino-Martín et al.
Mariana Del Pino et al.
A cohort study on the growth of 19 Argentinean children, aged 0 to 18 years, and 11 of their first-degree relatives with alterations in the SHOX gene or its regulatory regions is reported. Children are born shorter and experience a growth d...
A Review of Psychosocial Factors of Marfan Syndrome: Adolescents, Adults, Families, and Providers [0.03%]
马凡综合征的心理社会因素综述：青少年、成人、家庭和医护人员
Cory Nielsen,Ileana Ratiu,Mitra Esfandiarei et al.
Cory Nielsen et al.
The purpose of this article was to review the current literature on psychosocial implications of Marfan syndrome (MFS) and its impact on adolescents, adults, their families and to provide important considerations for providers. Since the pr...
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature [0.03%]
生物素-硫胺素反应性脑病：埃及一家系中SLC19A3的新突变及文献复习报告
Salvatore Savasta,Francesco Bassanese,Chiara Buschini et al.
Salvatore Savasta et al.
Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic disorder with poor genotype-phenotype correlation, caused by mutations in the SLC19A3 gene on chromosome 2q36.6. The disease is characterized...