Disease: Mental retardation unusual facies
- 5p13 microduplication in a malformed fetus and his unaffected father
- A case of de novo duplication of 15q24-q26.3
- A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion
- A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome
- A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1
- Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations
- Acro-cardio-facial syndrome: a microdeletion syndrome?
- Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants
- An adult patient with 49, XXXXY syndrome: further clinical and biological delineation
- An unusual case of KBG syndrome with unique oral findings
- An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3
- An unusual linear hypermelanosis reflecting lyonization in women with Borjeson-Forssman-Lehmann syndrome
- An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity
- An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome
- Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature
- Anxiety and autonomic response to social-affective stimuli in individuals with Williams syndrome
- Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability
- Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report
- Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience
- Bilateral intracranial calcifications with bilateral facial cutaneous naevus: Sturge Weber syndrome
- Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome
- Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
- CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
- Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain
- Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases
- Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome
- Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement
- Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH
- Clinical delineation of the PACS1-related syndrome--Report on 19 patients
- Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case
- Clinical phenotypes and a genetic analysis of patients with Sotos syndrome
- Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases
- Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <em>KMT2A</em>-Related Syndrome
- Co-Occurring Heterozygous <em>CNOT3</em> and <em>SMAD6</em> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype
- Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype
- Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B
- Coffin-Siris syndrome and apneas. Comment on "Coffin-Siris syndrome and delayed emergence-Is this an unusual or unknown anesthetic complication? Prabhakar P, Chandran SD, Tembhurne SA, Mathew A, Rai E. Pediatr Anesth. 2024; 00: 1-2. Doi: 10.1111/pan.
- Coffin-Siris syndrome and delayed emergence-Is this an unusual or unknown anesthetic complication?
- Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndrome
- Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association
- Congenital Refractory Glaucoma: A New Ophthalmic Association of Kabuki Syndrome and its Management With Glaucoma Drainage Devices
- Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion
- Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism
- Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases
- Epilepsy with eyelid myoclonias (Jeavons syndrome): An electro-clinical study of 40 patients from childhood to adulthood
- Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
- Faciocardiorenal syndrome: a wide clinical spectrum?
- Further clinical and molecular delineation of the 15q24 microdeletion syndrome
- Growth charts for individuals with Rubinstein-Taybi syndrome
- Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype
- Grub in the mouth: an unusual case with review of literature
- INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION
- Intact attentional orienting towards inverted faces revealed by both manual responses and eye-movement measurement in individuals with Williams syndrome
- Intellectual disability and hemizygous GPD2 mutation
- Intellectual disability, unusual facial morphology and hand anomalies in sibs
- Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
- Isolated tricuspid valve Staphylococcus lugdunensis endocarditis in patient with a KBG syndrome
- Johanson-Blizzard syndrome: dental findings and management
- KBG syndrome: Common and uncommon clinical features based on 31 new patients
- Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype
- Late Diagnosis of Congenital Hypothyroidism in Young Adult
- Linear nevus sebaceous syndrome in a patient with atypical associated abnormalities
- Mid-trimester fetal facial dysmorphology associated with 2p25.3 microdeletion
- Mitral valve diseases in Williams syndrome-case report and review of the literature
- Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH
- Mucopolysaccharidosis type II with inguinal hernia
- Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report
- Neural tube defects and atypical deletion on 22q11.2
- New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review
- NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications
- NIPBL gene mutations in two children with Cornelia de Lange syndrome
- Object recognition in Williams syndrome: uneven ventral stream activation
- Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome
- Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations
- Prevalence of Ocular Pathology on Initial Screening and Incidence of New Findings on Follow-up Examinations in Children With Trisomy 21
- Primrose syndrome: Characterization of the phenotype in 42 patients
- Psychomotor retardation with neutropenia for more than one year in a toddler
- Ramos-Arroyo syndrome: confirmation of an entity
- Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation
- Rett syndrome: a study of the face
- Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants
- Severity of hyperacusis predicts individual differences in speech perception in Williams Syndrome
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion
- Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome
- Submucosal Supernumerary Smooth Muscle Coat: A Common Histologic Finding in Mowat-Wilson Syndrome With or Without Hirschsprung Disease
- The heterogeneity of craniofacial morphology in Prader-Willi patients
- The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature
- The many faces of peroxisomal disorders: Lessons from a large Arab cohort
- The social phenotype of Williams syndrome
- The tale of two genes: from next-generation sequencing to phenotype
- Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome
- Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene
- Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
- Unusual and recently described cutaneous atrophic disorders
- Unusual cause of hoarse voice: Laryngotracheal histoplasmosis in renal transplant patient
- Unusual facies with delayed development and multiple malformations in a 14-month-old boy
- Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report
- Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review
- Witteveen-Kolk syndrome: The first patient from Turkey
- X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face