Clinical Dysmorphology

Papers
(The median citation count of Clinical Dysmorphology is 0. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-05-01 to 2025-05-01.)
ArticleCitations
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family7
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome6
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature5
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families4
A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes4
Restrictive dermopathy due to ZMPSTE24 deficiency4
Rare case of dual diagnosis in consanguineous family: a case report4
A new case of SUPT16H-associated syndromic neurodevelopmental delay3
Two novel variants and follow-up findings in four children with Bloom syndrome from two families3
Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups3
Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients3
Immune dysregulation in a dysmorphic child with 6q23.3 deletion: a single case report3
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations3
Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family3
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case3
Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant – first European family and literature review3
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene2
Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature2
Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report2
Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei2
TUBB3 R262H in a neonate with ptosis and vocal cord palsy2
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature2
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome2
Familiar case of a small TBC1D24 and ATP6V0C-containing microdeletion associated with developmental delay, microcephaly, and seizures2
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus2
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients1
A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype1
Fetal methotrexate syndrome following an unsuccessful medication abortion – a rare syndrome posed to become more common1
Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris1
A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia1
DEGS1-related leukodystrophy: a clinical report and review of literature1
A case report of Hennekam syndrome with a mutation in the CCBE1 gene1
A challenging diagnosis of the PIK3CA-related overgrowth spectrum1
Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report1
A familial rearrangement resulting in pure duplication of distal 19p13.31
A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge–Janssens syndrome type 21
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD91
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?1
A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay1
Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey1
Bloom syndrome in children: unusual case of early onset lung damage1
Angelman syndrome with a 15q11q13 deletion in a mother and daughter1
Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report1
The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning1
First case of Myhre syndrome with schizophrenia1
Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur–Chung syndrome in a single family1
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features1
X-Autosome translocations: X-inactivation and effect on phenotype1
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia1
Novel antenatal presentation of cystic hygroma in a case of Koolen–de Vries syndrome1
Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson1
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant1
A proximal 300kb deletion further defining critical regions in 4q25 syndrome1
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants1
Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome1
PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature0
Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II0
Expanding the clinical spectrum of NHP2-related dyskeratosis congenita: a case with novel phenotypic features0
“Laurin-Sandrow Syndrome – a review of the literature and classification system”0
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG10
Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review0
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening0
Variants of the GNAI1 gene manifest as Prader–Willi-like syndrome: Case report with literature review0
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype0
EBF3-related neurodevelopment disorder affecting an individual of Singaporean Arab and Malay origin: case report and review of the literature0
Identification of a novel IQCE variant in a Korean patient with nonsyndromic postaxial polydactyly0
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype0
LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature0
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation0
A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness0
Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report0
Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient0
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly0
A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis0
A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported0
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings0
Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects0
Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient0
Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay0
Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations0
Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism0
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome0
Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience0
Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3-related hypotrichosis with juvenile macular dystrophy0
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature0
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome0
Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld–Rieger syndrome: case report and review of literature0
Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding0
Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism0
Targeted genetic testing approach in a case with characteristic clinical and radiographic findings of Roberts phocomelia syndrome0
Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?0
A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases0
Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant0
Aphallia in a neonate with VACTERL malformation: report of a rare association0
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature0
A previous clinical diagnosis of Ullrich–Feichtiger syndrome is molecularly defined as Townes–Brocks syndrome0
Rare variant of atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with breast malformation: case report and review of literature0
Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome0
Acalvaria and imperforate anus: an extremely rare association0
Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay0
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants0
Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures0
Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability0
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata0
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability0
The dysmorphic phenotype in vascular Ehlers Danlos syndrome0
Silver–Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient0
Novel FREM1 homozygous variant in an individual with an intermediate phenotype between Bifid Nose with or without Anorectal and Renal Anomalies and Manitoba-oculo-tricho-anal syndromes0
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis0
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly0
A further case of Skraban-Deardorff syndrome and review of the literature0
Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic0
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia0
An unexpected clinical presentation in periodontal Ehler-Danlos syndrome: preterm birth, profound intellectual disability and self-injurious behavior0
Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort0
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion0
Clinical and molecular study of Egyptian patients with Treacher Collins syndrome0
De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature0
Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion0
A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker–Young–Simpson syndrome phenotype0
A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant0
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum0
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population0
Case of de-novo variant in CDH2 with novel findings: a case report and review of literature0
Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication0
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing0
Interstitial 3p25.3 deletion syndrome: 13 years’-long follow-up of an affected individual0
Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?0
Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion0
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome0
Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence0
Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation0
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature0
Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects0
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant0
Case report of a 21-year-old woman with Gabriele-de Vries syndrome and autoimmune hypothyroidism0
A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy0
Prenatal presentation and diagnosis of a case of fetal varicella syndrome0
Meier–Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review0
A 17-month-old girl with fetal valproate syndrome and ocular coloboma0
Dilated aorta in CNOT3-related neurodevelopmental disorder: ‘expanding’ the phenotype0
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant0
Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva0
Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature0
Hypertension and brachydactyly syndrome: a further case report0
Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.0
A girl with a de novo PPP2R5D W207R pathogenic variant was also born with an occipital encephalocele0
Two siblings with GAPO syndrome: a novel missense variant in ANTXR10
A novel genomic variant in two siblings with very low-density lipoprotein receptor-associated cerebellar hypoplasia0
Extending the phenotype of Shashi–Pena syndrome: a case report and review of literature0
Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature0
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination0
Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant0
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum0
CK syndrome: a rare cause of developmental delay in a young boy0
Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome0
0.080699920654297