Clinical Dysmorphology

Article	Citations
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family	7
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome	6
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature	5
A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes	4
Restrictive dermopathy due to ZMPSTE24 deficiency	4
Rare case of dual diagnosis in consanguineous family: a case report	4
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families	4
Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family	3
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case	3
Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant – first European family and literature review	3
A new case of SUPT16H-associated syndromic neurodevelopmental delay	3
Two novel variants and follow-up findings in four children with Bloom syndrome from two families	3
Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups	3
Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients	3
Immune dysregulation in a dysmorphic child with 6q23.3 deletion: a single case report	3
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations	3
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome	2
Familiar case of a small TBC1D24 and ATP6V0C-containing microdeletion associated with developmental delay, microcephaly, and seizures	2
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus	2
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene	2
Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature	2
Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report	2
Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei	2
TUBB3 R262H in a neonate with ptosis and vocal cord palsy	2
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature	2

Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report	1
The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning	1
First case of Myhre syndrome with schizophrenia	1
Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur–Chung syndrome in a single family	1
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features	1
X-Autosome translocations: X-inactivation and effect on phenotype	1
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia	1
Novel antenatal presentation of cystic hygroma in a case of Koolen–de Vries syndrome	1
Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson	1
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant	1
A proximal 300kb deletion further defining critical regions in 4q25 syndrome	1
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants	1
Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome	1
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients	1
A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype	1
Fetal methotrexate syndrome following an unsuccessful medication abortion – a rare syndrome posed to become more common	1
Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris	1
A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia	1
DEGS1-related leukodystrophy: a clinical report and review of literature	1
A case report of Hennekam syndrome with a mutation in the CCBE1 gene	1
A challenging diagnosis of the PIK3CA-related overgrowth spectrum	1
Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report	1
A familial rearrangement resulting in pure duplication of distal 19p13.3	1
A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge–Janssens syndrome type 2	1
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9	1
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 delay	1
Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey	1
Bloom syndrome in children: unusual case of early onset lung damage	1
Angelman syndrome with a 15q11q13 deletion in a mother and daughter	1
A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness	0
Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report	0
Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient	0
Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort	0
A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported	0
Clinical and molecular study of Egyptian patients with Treacher Collins syndrome	0
A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis	0
Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient	0
A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker–Young–Simpson syndrome phenotype	0
Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects	0
Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations	0
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population	0
Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay	0
Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience	0
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing	0
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome	0
Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?	0
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature	0
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome	0
Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld–Rieger syndrome: case report and review of literature	0

Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation	0
Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding	0
Targeted genetic testing approach in a case with characteristic clinical and radiographic findings of Roberts phocomelia syndrome	0
Case report of a 21-year-old woman with Gabriele-de Vries syndrome and autoimmune hypothyroidism	0
Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?	0
Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant	0
Meier–Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review	0
Aphallia in a neonate with VACTERL malformation: report of a rare association	0
A previous clinical diagnosis of Ullrich–Feichtiger syndrome is molecularly defined as Townes–Brocks syndrome	0
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant	0
Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome	0
Acalvaria and imperforate anus: an extremely rare association	0
Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures	0
Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability	0
Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay	0
Hypertension and brachydactyly syndrome: a further case report	0
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability	0
The dysmorphic phenotype in vascular Ehlers Danlos syndrome	0
Extending the phenotype of Shashi–Pena syndrome: a case report and review of literature	0
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis	0
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination	0
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 syndromes	0
Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic	0
CK syndrome: a rare cause of developmental delay in a young boy	0
A further case of Skraban-Deardorff syndrome and review of the literature	0
An unexpected clinical presentation in periodontal Ehler-Danlos syndrome: preterm birth, profound intellectual disability and self-injurious behavior	0
Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II	0
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia	0
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion	0
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1	0
De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature	0
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening	0
Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion	0
A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant	0
Identification of a novel IQCE variant in a Korean patient with nonsyndromic postaxial polydactyly	0
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum	0
Case of de-novo variant in CDH2 with novel findings: a case report and review of literature	0
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation	0
Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication	0
Interstitial 3p25.3 deletion syndrome: 13 years’-long follow-up of an affected individual	0
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly	0
Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion	0
Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence	0
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature	0
Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects	0
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings	0
A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy	0
Prenatal presentation and diagnosis of a case of fetal varicella syndrome	0
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant	0
Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism	0
A 17-month-old girl with fetal valproate syndrome and ocular coloboma	0
Dilated aorta in CNOT3-related neurodevelopmental disorder: ‘expanding’ the phenotype	0
Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3-related hypotrichosis with juvenile macular dystrophy	0
Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature	0
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome	0
Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva	0
A girl with a de novo PPP2R5D W207R pathogenic variant was also born with an occipital encephalocele	0
Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism	0
Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.	0
A novel genomic variant in two siblings with very low-density lipoprotein receptor-associated cerebellar hypoplasia	0
A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases	0
Two siblings with GAPO syndrome: a novel missense variant in ANTXR1	0
Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature	0
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature	0
Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant	0
Rare variant of atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with breast malformation: case report and review of literature	0
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum	0
Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome	0
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants	0
PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature	0
Expanding the clinical spectrum of NHP2-related dyskeratosis congenita: a case with novel phenotypic features	0
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata	0
“Laurin-Sandrow Syndrome – a review of the literature and classification system”	0
Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review	0
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 patient	0
Variants of the GNAI1 gene manifest as Prader–Willi-like syndrome: Case report with literature review	0
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype	0
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype	0
LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature	0
EBF3-related neurodevelopment disorder affecting an individual of Singaporean Arab and Malay origin: case report and review of the literature	0

MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly

0