Oral-Facial-Digital Syndrome Type IX with Subfoveal Drusenoid Deposit [0.03%]
口腔-面部-数字综合症第九型伴黄斑区下方钻石样沉积物
Jong In You,Seul Ki Bang,Seung-Young Yu et al.
Jong In You et al.
We describe a patient with oral-facial-digital syndrome (OFDS) with the following anomalies: cleft lip, cleft palate, micrognathia, hypertelorism, nasal septum deviation, thumb polydactyly in the right hand, and partial agenesis of the corp...
Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis [0.03%]
ABCB11新型c.3484G>T/p.Glu162Ter变异与ATP8B1的c.208G>A/p.Asp70Asn变异相结合可导致进行性家族性梗阻性黄疸出现严重症状
Mervan Bekdas,Guray Can,Recep Eroz et al.
Mervan Bekdas et al.
Progressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hep...
Nejmiye Akkus,Betul Kilic,Pelin Ozyavuz Cubuk
Nejmiye Akkus
As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficienc...
Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature [0.03%]
包含FOXP1基因的3p13缺失综合征的秘鲁新生男婴：文献综述
Hugo H Abarca-Barriga,Milana Trubnykova,Félix Chavesta-Velásquez et al.
Hugo H Abarca-Barriga et al.
Copy number variation in loss of 3p13 is an infrequently reported entity characterized by hypertelorism, aniridia, microphthalmia, high palate, neurosensorial deafness, camptodactyly, heart malformation, development delay, autism spectrum d...
Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2 [0.03%]
肯尼-卡菲氏综合征 II 型女孩的视功能障碍和智力障碍
Desirée Deconte,Tulia Cristina Kreusch,Bruna Pavan Salvaro et al.
Desirée Deconte et al.
Kenny-Caffey syndrome (KCS) is a rare genetic condition characterized by growth retardation, bone abnormalities, and hypoparathyroidism. Herein, we report an unusual case of a 10-year-old girl with Kenny-Caffey syndrome type 2 (KCS2) presen...
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2 [0.03%]
Xp22.3p22.2缺失患者的微小眼，线性皮肤缺损，胼胝体发育不全和唇裂
Siulan Vendramini-Pittoli,Rosana Maria Candido-Souza,Rodrigo Gonçalves Quiezi et al.
Siulan Vendramini-Pittoli et al.
The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corp...
GRIN2A -Related Severe Epileptic Encephalopathy Treated with Memantine: An Example of Precision Medicine [0.03%]
使用Memantine治疗与GRIN2A相关的严重癫痫性脑病：精准医学的一个实例
Ali Mir,Mohammed Qahtani,Shahid Bashir
Ali Mir
Epileptic spasm (ES) is one of the seizure types which is difficult to treat. Next-generation sequencing has facilitated rapid gene discovery that is linked to ES and GRIN2A being one of them. Genotype-driven precision medicine is on the ho...
LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes [0.03%]
三个家族成员表现出不同的临床表现的PTPN11基因突变的LEOPARD综合征
Nuha Alfurayh,Fahad Alsaif,Nouf Alballa et al.
Nuha Alfurayh et al.
LEOPARD syndrome (LS) is a rare autosomal dominant disorder that is characterized by multiple lentigines and various congenital anomalies. The clinical diagnosis of LS requires molecular confirmation. The most frequently reported mutations ...
Gülbahar Güzel Erdal,Mahmut Balkan
Gülbahar Güzel Erdal
Short stature and growth retardation in girls commonly occur in patients with Turner syndrome. We present a 19-year-old-girl with primary amenorrhea and growth retardation, who has a mosaic karyotype, 46X,i(Xq)[17]/45,X[8]. Classic Turner s...
Stress and Coping in Caregivers of Children with RASopathies: Assessment of the Impact of Caregiver Conferences [0.03%]
照看RASopathy儿童的护理者的压力及应对：评估护理者会议的影响
Athena Ganetsos,Ellyn Farrelly,Pilar Magoulas et al.
Athena Ganetsos et al.
The study aimed to assess baseline stress and coping mechanisms among caregivers of children with RASopathies (i.e., cardiofaciocutaneous and Costello's syndrome) and the impact of attending biennial caregiver conferences. Caregivers comple...