Disease: Symphalangism with multiple anomalies of hands and feet
- A "simple" method for correction of the Apert's hand
- A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability
- A case of amniotic band syndrome with cleft lip and palate
- A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature
- A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome
- A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD)
- A Feingold syndrome case with previously undescribed features and a new mutation
- A large duplication involving the IHH locus mimics acrocallosal syndrome
- A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal
- A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies
- A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation
- A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21
- A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome
- Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report
- Acrocallosal syndrome in fetus: focus on additional brain abnormalities
- An anatomical classification of congenital proximal radioulnar synostosis based on retrospective MRI measurement combined with radiography
- Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review
- Apert Syndrome
- Apert syndrome: A consensus on the management of Apert hands
- Bartsocas-Papas syndrome with variable expressivity in an Egyptian family
- Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
- Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report
- Carpenter syndrome in a patient from Tanzania
- Class II Analphoid Chromosome in a Child with Aberrant Chromosome 7: A Rare Cytogenetic Association
- Clinical analysis of 73 cases of macrodactyly
- Clinical and genetic variability of oculodentodigital dysplasia
- Clinical characteristics of 170 cases of macrodactyly
- Clinical Characteristics of 90 Macrodactyly Cases
- Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation
- Complex toe syndactyly with characteristic facial phenotype: a new syndrome?
- Compound heterozygous alterations in intraflagellar transport protein <em>CLUAP1</em> in a child with a novel Joubert and oral-facial-digital overlap syndrome
- Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature
- Congenital heart defects in oculodentodigital dysplasia: Report of two cases
- Congenital radioulnar synostosis presenting in adulthood - a case report
- Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation
- ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities
- Facial clefts and associated limb anomalies: description of three cases and a review of the literature
- FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies
- Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome
- Fraser Syndrome
- Fraser syndrome: a new case report with review of the literature
- Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation
- Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss
- Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation
- Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients
- Goltz syndrome and PORCN mosaicism
- Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum
- Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism
- Imaging features of humerus, radius and ulna rare malformation
- Is short-term hand therapy effective in a child with congenital radioulnar synostosis? A case report
- Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome
- Laurin-Sandrow syndrome: review and redefinition
- Lethal multiple pterygium syndrome in a newborn, a case report
- Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
- M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism
- Management of knee deformities in children with arthrogryposis
- Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
- Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome
- Mild case of Curry-Jones syndrome
- Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head
- Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes
- Multiple radiopaque mandibular lesions in a patient with Apert syndrome
- Multiple synostoses syndrome: Clinical report and retrospective analysis
- Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization
- Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
- Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome
- New insights into genotype-phenotype correlation for GLI3 mutations
- Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
- Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family
- Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes
- Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect?
- Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene
- Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders
- One-stage rotational osteotomy for congenital radioulnar synostosis
- Orodental Findings in Patients with Lacrimo-Auriculo-Dento-Digital Syndrome
- Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis
- Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth
- Pfeiffer syndrome
- Popliteal Pterygium Syndrome With Syngnathia
- Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies
- Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies
- Preventing misdiagnosis in amniotic band sequence: a case report
- Proximal symphalangism and premature ovarian failure
- Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes
- Rare Cause of Infranodal Block
- Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization
- Surgical Considerations for Massive Tarsal Coalitions in Multiple Synostosis Syndrome: A Case Report
- Syndactyly
- The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans
- The Greig cephalopolysyndactyly syndrome
- Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum
- Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome
- Triphalangeal thumbs with brachyectrodactyly: a sporadic case
- Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype
- Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings
- Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations
- Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
- Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1
- What syndrome is this? Disorganization syndrome
- Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13