Severe Polyhydramnios with Consistent Fetal Full Bladder: A Novel Sign of Antenatal Bartter's Disease [0.03%]
严重多羊水并持续性胎儿膀胱充盈：一种产前Bartter综合征的新征象
Seema Thakur,Manisha Kumar,Supriya Malhotra et al.
Seema Thakur et al.
Bartter's disease, an inherited renal tubular disorder is due to a defect in ion transport across the ascending limb of the loop of Henle leading to failure of the ability of kidneys to concentrate urine and hence polyuria. We present three...
Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil [0.03%]
巴西南部怀疑有22q11.2缺失综合征患者的先天性心脏病和畸形面部特征
Bruna Lixinski Diniz,Andressa Schneiders Santos,Andressa Barreto Glaeser et al.
Bruna Lixinski Diniz et al.
22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart disease (CHD), which can also include some combination of other features. Thus, the aim o...
Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review [0.03%]
克氏综合征嵌合体46,XX / 47，XXY：一个新的病例和文献回顾
Chayada Tangshewinsirikul,Wirada Dulyaphat,Thipwimol Tim-Aroon et al.
Chayada Tangshewinsirikul et al.
Most cases of Klinefelter syndrome (KS) have 47,XXY karyotype. We reported the first case of 46,XX/47,XXY KS whose genital ambiguity was detected prenatally with postnatal confirmation of the mosaicism and ovotesticular disorder of sex deve...
22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature [0.03%]
22q11.2微重复的两例临床报道及文献复习
Aderonke Oyetunji,Merlin G Butler
Aderonke Oyetunji
We present two male subjects (6 and 14 years old) with mild dysmorphism, intellectual disability, and/or autism spectrum disorder with chromosome 22q11.2 microduplications of different sizes. We then compared the clinical and genetic findin...
Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients [0.03%]
两例帕利斯特-基廉综合征患者的临床变异分析
Maha M Eid,Ola M Eid,Sawsan Abdel-Hadi et al.
Maha M Eid et al.
Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder caused by a mosaic tetrasomy of chromosome 12p, which mainly manifests with craniofacial dysmorphism, intellectual disability (ID), auditory disturbance, epilepsy, and a v...
Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review [0.03%]
ELANE基因新突变导致新生儿严重先天性中性粒细胞减少症1例及相关文献复习
Yue Jia,Changjun Yue,Kathryn Bradford et al.
Yue Jia et al.
Severe neutropenia is defined as an absolute neutrophil count (ANC) of less than 0.5 × 10 9 /L. Severe congenital neutropenia (SCN) is an inborn disorder with maturation arrest of granulocytes due to various genetic abnormalities, which ma...
A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12 [0.03%]
睫状体基因TTC21B的复合杂合突变导致第12型肾囊肿病 nephronophthisis
Wafaa Moustafa M Abo El Fotoh,Amira Fathy Al-Fiky
Wafaa Moustafa M Abo El Fotoh
Nephronophthisis (NPHP) is one of the renal ciliopathies and is also a cystic renal disorder with an autosomal recessive inheritance, which usually progresses to end-stage renal disease (ESRD). It affects children, adolescents, and young ad...
Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer-Rokitansky-Kuster-Hauser Syndromes [0.03%]
一个原发性闭经病例中的两种罕见综合征：18号染色体部分缺失和梅耶-罗特林-库斯特-哈user综合征
Monika Anant,Nutan Raj,Neelu Yadav et al.
Monika Anant et al.
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and 18p deletion syndrome, two genetic disorders having distinct genetic etiologies, have an exceedingly rare likelihood of coexistence. Vaginal agenesis or MRKH syndrome, the developmental fai...
Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant [0.03%]
IFNGR1复合杂合子变异导致的完全型干扰素-γ受体1缺乏患儿并发鸟分支杆菌播散感染
Grazia Bossi,Edoardo Errichiello,Orsetta Zuffardi et al.
Grazia Bossi et al.
Complete interferon-γ receptor 1 deficiency is a monogenic primary immunodeficiency caused by IFNGR1 germline defects, with autosomal dominant or recessive inheritance, which results in invasive mycobacterial diseases with varying degrees ...
Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology [0.03%]
早期婴儿生长不良、黄疸和多尿的罕见致命病因所致常见症状：病例报告
Sonia Sharma
Sonia Sharma
A 5-month-old female infant from a consanguineous Indian Muslim family presented with polyuria, polydipsia, failure to thrive, impaired renal function, and neonatal hepatitis of unknown cause at 1 month of age. Clinical exome testing reveal...