Clinical Dysmorphology

Article	Citations
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion	11
SOX11-related syndrome: report on a new case and review	7
Novel HOXA2 variant presenting with microtia and variable hearing impairment in four-generation pedigree	6
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers	6
Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review	6
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature	5
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type	5
Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge	4
Congenital dermoid inclusion cyst over the anterior fontanel in Chinese children	4
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature	4
Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome	4
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome	4
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant	4
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families	4
Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability	4
A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation	4
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation	3
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia	3
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly	3
DEGS1-related leukodystrophy: a clinical report and review of literature	3
6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability	3
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome	3
X-Autosome translocations: X-inactivation and effect on phenotype	3
Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report	3
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly	3

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene	3
PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature	2
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene	2
A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant	2
Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features	2
A further case of Skraban-Deardorff syndrome and review of the literature	2
Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy	2
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1	2
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome	2
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion	2
Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin–Lowry syndrome in a family with variable features and diabetes 2	2
Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol	2
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa	2
Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly	2
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1	2
A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant	2
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing	2
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature	2
Delayed diagnosis of Williams–Beuren syndrome in an adolescent of Jamaican descent: examining racial disparities in genetics education	2
Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant	2
A child with congenital short gut associated with DYNC2LI1 ciliopathy	1
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype	1
Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?	1
Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations	1
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	1
A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker–Young–Simpson syndrome phenotype	1
A de-novo NFIX mutation causes a case of neonatal lethal Marshall–Smith syndrome	1
Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism	1
Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature	1
8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features	1
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant	1
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus	1
Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients	1
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant	1
First case of Myhre syndrome with schizophrenia	1
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing	1
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies	1
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype	1
Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome	1
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations	1
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1	1
Mongolian spots in GM1 gangliosidosis: a pictorial report	1
Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic	1
Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient	1
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant	1
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings	1
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly	1
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum	1
Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding	1
A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature	1

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients	1
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)	1
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?	1
Clinical and genetic characterization of congenital lipoid adrenal hyperplasia	1
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability	1
Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups	1
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis	1
A previous clinical diagnosis of Ullrich–Feichtiger syndrome is molecularly defined as Townes–Brocks syndrome	1
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	1
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome	1
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome	1
The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning	0
Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing	0
LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature	0
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9	0
Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature	0
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature	0
A further patient with genitopatellar syndrome requiring multidisciplinary management	0
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome	0
Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy	0
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants	0
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	0
TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings	0
A de-novo 15q24.2 deletion involving SIN3A is associated with emotional, behavioural, motor problems and hypersensitivity in a girl with above average intelligence and typical facial features.	0
Acalvaria and imperforate anus: an extremely rare association	0
Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects	0
Fetal methotrexate syndrome following an unsuccessful medication abortion – a rare syndrome posed to become more common	0
Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson	0
Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld–Rieger syndrome: case report and review of literature	0
Prenatal presentation and diagnosis of a case of fetal varicella syndrome	0
Phenotypic variability in Muenke syndrome-observations from five Danish families: Erratum	0
Restrictive dermopathy due to ZMPSTE24 deficiency	0
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination	0
Desbuquois dysplasia Kim variant: a rare case report syndrome	0
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia	0
Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3-related hypotrichosis with juvenile macular dystrophy	0
A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant	0
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome	0
Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?	0
Novel antenatal presentation of cystic hygroma in a case of Koolen–de Vries syndrome	0
Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant	0
Two siblings with GAPO syndrome: a novel missense variant in ANTXR1	0
A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness	0
Clinical and molecular study of Egyptian patients with Treacher Collins syndrome	0
Rare case of dual diagnosis in consanguineous family: a case report	0
Clinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletion	0
A proximal 300kb deletion further defining critical regions in 4q25 syndrome	0
A child with rhombencephalosynapsis, agenesis of the trigeminal ganglion and optic coloboma (without alopecia): a variant of the cerebellotrigeminal dermal dysplasia?	0
Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient	0
Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation	0
Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis	0
Aphallia in a neonate with VACTERL malformation: report of a rare association	0
Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures	0
Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum	0
A novel genomic variant in two siblings with very low-density lipoprotein receptor-associated cerebellar hypoplasia	0
Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorum	0
An unexpected clinical presentation in periodontal Ehler-Danlos syndrome: preterm birth, profound intellectual disability and self-injurious behavior	0
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype	0
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features	0
Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience	0
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants	0
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum	0
A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia	0
X-linked BCOR-related syndrome in two male siblings	0
Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects	0
CK syndrome: a rare cause of developmental delay in a young boy	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
Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism	0
Extending the phenotype of Shashi–Pena syndrome: a case report and review of literature	0
“Laurin-Sandrow Syndrome – a review of the literature and classification system”	0
A familial rearrangement resulting in pure duplication of distal 19p13.3	0
Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report	0
Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review	0
A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis	0
A 17-month-old girl with fetal valproate syndrome and ocular coloboma	0
Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II	0
Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries	0
A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases	0
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type	0
Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature	0

Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris	0
Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.	0
Hypertension and brachydactyly syndrome: a further case report	0
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata	0
Bloom syndrome in children: unusual case of early onset lung damage	0
Rare variant of atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with breast malformation: case report and review of literature	0
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?	0
The dysmorphic phenotype in vascular Ehlers Danlos syndrome	0
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature	0
First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa	0
Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant	0
Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report	0
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening	0
Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication	0
Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay	0
Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability	0
When Rothmund–Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia	0
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families	0
Two novel variants and follow-up findings in four children with Bloom syndrome from two families	0
A challenging diagnosis of the PIK3CA-related overgrowth spectrum	0
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population	0
Angelman syndrome with a 15q11q13 deletion in a mother and daughter	0
De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature	0
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion	0
Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome	0
Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei	0
Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort	0