Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Hemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome.

Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team.

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.

Diagnosing Dysphagia in Forestier Syndrome: A Dynamic Digital Radiology Application.

Evaluation of AI-enhanced tele-ECG response time and diagnosis in acute chest pain patients.

A Case Report on Glaucoma and Anterior Segment Abnormalities in Axenfeld-Rieger Syndrome.

Clear Cell Papulosis Associated With Multiple Developmental Abnormalities of the Skin.

A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.

3M syndrome with novel CUL7 variants in a Chinese patient: a case report.

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.

Clinical and genetic characterization of Weaver syndrome: A case report of an EZH2 mutation and review of the literature.

Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity.

Segmental macular hyperpigmentation: new genes, new clinical implications.

Two duodenal sessile serrated lesions in a patient with serrated polyposis syndrome: case report and review of the literature.

Aphallia in a patient with 9q34 duplication syndrome: a case report.

Anesthesia management for dental procedures in a patient with 1p36 deletion syndrome: a case report.

Unusual fundus lesion in mosaic neurofibromatosis type 2.

Case Report of 49,XXXXY Syndrome: A Rare Variation of Klinefelter Syndrome With Seizure Disorder and ASD.

SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review.

The oral and maxillofacial manifestations of Stickler syndrome: A systematic review.

Videodermoscopy as a Diagnostic Tool for Pili Trianguli and Canaliculi Syndrome.

Laryngeal Findings in a 20-Month-Old With Cri du Chat Syndrome.

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.

Pycnodysostosis and severe laryngomalacia complicating general anesthesia: A case report.

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.

UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression.

Imagawa-Matsumoto Syndrome: The First Case From Turkey.

Stepwise surgical management of binder syndrome with skeletal class III malocclusion in adults.

Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case report.

Resection of Fourth-to-Fifth Metacarpal Synostosis and Fascial Interposition for Creation of a Functional Grip/Pinch in the Apert Hand.

Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child - A Case Report.

Characterization of Ocular Morphology in Col4a3-/- Mice as a Murine Model for Alport Syndrome.

Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.

Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.

Flat Head Syndrome in Infants.

Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities.

T-wave morphology abnormalities in the STREAM stage 1 trial.

Oral and dental abnormalities in Coffin Siris syndrome : A new case report.

Progressive Strategy for Congenitally Missing Anteriors in Binder Syndrome: A Case Report.

Longitudinal skeletal growth and growth plate morphological characteristics of chondro-tissue specific CUL7 knockout mice.

Differentiation of the body build and posture in the population of people with intellectual disabilities and Down Syndrome: a systematic review.

Histological Features of Neovaginal Epithelium after Vaginoplasty in Mayer-Rokitansky-Küster-Hauser Syndrome.

Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females.

Action potential morphology affects T-wave symmetry (simulation study).

Infectious Bronchitis Virus California Variant CA1737 Isolated from a Commercial Layer Flock with Cystic Oviducts and Poor External Egg Quality.

Comparative histological analysis of the alae nasi in French bulldogs with brachycephalic obstructive airway syndrome and unaffected non-brachycephalic dogs.

Early-onset Marfan syndrome with a novel missense mutation: A case report.

COVID-19 psychosis versus psychosis due to cytotoxic lesion of the corpus callosum (CLOCC): A case report and review.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Generation and mutational analysis of a transgenic murine model of the human MAF mutation.

Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review.

Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant.

Börjeson-Forssman-Lehmann syndrome: A case report.

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.

Novel mutation causing Zellweger syndrome.

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.

Comparison of Otoacoustic Emission (OAE) and Brainstem Evoked Response Audiometry (BERA) in High Risk Infants and Children under 5 Years of Age for Hearing Assessment in Western India: A Modification in Screening Protocol.

Possible association of trichorhinophalangeal syndrome I and intracranial subependymoma.

Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.

Cryptogenic posterior circulation stroke in children.

Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients.

Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review.

Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report.

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

Coloboma of the retina, choroid and iris co-existing with cardiac & Skeletal anomalies in a male Nigerian: A case of noonan syndrome.

A Rarity Among the Rare: Psychiatric Manifestations in a Young Woman With Stiff-Person Syndrome.

Laurin-Sandrow Syndrome: A Case Report and Review of Literature.

Kagami-Ogata syndrome: a case report.

A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation.

Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

A gonadal mosaicism novel KMT2D mutation identified by haplotype construction and clone sequencing strategy.

Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

Surgical management of cervical kyphosis in larsen syndrome. Case report and review of literature.

A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.

Angiokeratoma Circumscriptum Naeviforme Presenting as a Dark Warty Plaque on the Leg.

Anterior longitudinal ligament release from a posterior approach: an alternative to three-column osteotomy.

Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.

Our Strategy in Management of Maxillonasal Dysplasia in Pediatric Patients.

Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74.

Goyal-Naqvi Syndrome (Concurrent Trisomy 10p and Terminal 14q Deletion): A Review of the Literature.

Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

[Clinical and genetic analysis of a child with 2q37 deletion syndrome resulting from a translocation involving chromosome satellite].

Clinical and Radiologic Characteristics of Caudal Regression Syndrome in a 3-Year-Old Boy: Lessons from Overlooked Plain Radiographs.

Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.

Prenatal diagnosis and ultrasonographic findings of partial trisomy of chromosome 6q: A case report and review of the literature.

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).

Presumed cancer-associated retinopathy (CAR) mimicking Sudden Acquired Retinal Degeneration Syndrome (SARDS) in canines.

A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.

The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.

Multiple Cephalic Malformations in a Calf.

Bilateral Foot Orthoses Elicit Changes in Gait Kinematics of Adolescents with Down Syndrome with Flatfoot.

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.

Characterization of vascular stains associated with high flow.

White matter abnormality in Jacobsen syndrome assessed by serial MRI.

Femoral nerve split with variant iliacus muscle: a potential source of femoral nerve entrapment.

Pontocerebellar Hypoplasia: a Pattern Recognition Approach.

Corneal Abnormalities Are Novel Clinical Feature in Wolfram Syndrome.

CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage.

Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.

[Recurrent spontaneous pneumothorax revealing Marfan's syndrome].

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.

Diversity and dysmorphology.

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome.

XEN-augmented Baerveldt Implantation for Refractory Childhood Glaucoma: A Retrospective Case Series.

A 16q22.2-q23.1 deletion identified in a male infant with West syndrome.

[A girl with unruly hair].

Cannabis Teratology Explains Current Patterns of Coloradan Congenital Defects: The Contribution of Increased Cannabinoid Exposure to Rising Teratological Trends.

Traboulsi Syndrome in Pakistan.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective.

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.

Clinical and genetic findings of two cases with Apert syndrome.

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

Case of Waardenburg Shah syndrome in a family with review of literature.

Trichorhinophalangeal syndrome.

Nonsyndromic Congenital Absence of the Pectoralis Muscles.

[Clinical features and genetic analysis of a case with Coffin-Siris syndrome].

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

Robinow syndrome: a diagnosis at the fingertips.

A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia.

Myoclonic Jerks and Schizophreniform Syndrome: Case Report and Literature Review.

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics.

Prevalence of Childhood Permanent Hearing Loss after Early Complex Cardiac Surgery.

Surgical Management of Facial Features of Robinow Syndrome: A Case Report.

Intestinal T-cell lymphoma with enteropathy-associated T-cell lymphoma-like features arising in the setting of adult autoimmune enteropathy.

Fetal valproate syndrome: the Irish experience.

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report.

A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.

Orthognathic Surgery and Rhinoplasty to Address Nasomaxillary Hypoplasia.

[Clinical and genetic characteristics of Williams-Beuren syndrome: 2 cases report].

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.

Early fetal presentation of Koolen-de Vries: Case report with literature review.

Comparison of Two Different Grafts in Nasal Framework Reconstruction of Binder Syndrome: Cartilage and Silicone.

Binder syndrome: Clinical findings and surgical treatment of 18 patients at the Department of Plastic Surgery in Polanica Zdrój.

Morphometric Analysis of the Posterior Cranial Fossa in Syndromic and Nonsyndromic Craniosynostosis.

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.

[An Adult Case of 22q11.2 Deletion Syndrome with Congenital Abnormalities and Neurodevelopmental Disorders, Which Remained Undiagnosed Until Presentation of Auditory Hallucinations].

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

Cerebrofacial arteriovenous metameric syndrome (CAMS): a spectrum disorder of craniofacial vascular malformations.

Hirschsprung's disease associated with alopecia universalis congenita: a case report.

A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33.

OCT in a Myelinated Retinal Nerve Fiber Syndrome with Reduced Vision.

An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.

2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome.

Wideband reflectance in Down syndrome.

Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.

Prenatal diagnosis of Binder's syndrome: report of two cases.

Piezogenic Pedal Papules with Mitral Valve Prolapse.

PLATEAU IRIS SYNDROME--CASE SERIES.

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.

CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33.

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

Minor physical anomalies are more common among the first-degree unaffected relatives of schizophrenia patients - Results with the Méhes Scale.

Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review.

Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis.

Clinical and neuroradiological features of the 9p deletion syndrome.

Dental Management of a Patient with Nager Acrofacial Dysostosis.

Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

Down syndrome--genetic and nutritional aspects of accompanying disorders.

CHOROIDAL MELANOMA IN A PATIENT WITH WAARDENBURG SYNDROME.

Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype.

Change in acetabular version after lumbar pedicle subtraction osteotomy to correct post-operative flat back: EOS® measurements of 38 acetabula.

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies.

Peripheral Avascular Retina in a Term Male Neonate With Microvillus Inclusion Disease and Pancreatic Insufficiency.

PHACES syndrome: Diode laser photocoagulation of intraoral hemangiomas in six young patients.

Oral tori in chronic hemodialysis patients.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Double trisomy 48,XXX,+18 with multiple dysmorphic features.

Flat trachea syndrome: a rare condition with symptoms similar to obstructive airway disease.

[A complicated case study: Hennekam syndrome].

[PENS (papular epidermal nevus with "skyline" basal cell layer)].

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.