Disease: Polysyndactyly overgrowth syndrome
- <em>SOST</em>-Related Sclerosing Bone Dysplasias
- A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactyly
- A clinicoradiologic study of the shoulder in Apert syndrome
- A distinctive overgrowth syndrome with polysyndactyly
- A new X-linked mental retardation-overgrowth syndrome
- A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report
- Amniotic Constriction Bands: Secondary Deformities and Their Treatments
- Anomalies of the fingers and toes associated with Klippel-Trenaunay syndrome
- Arterial patterns in congenital deformities of the hand (author's transl)
- Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome
- Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parents
- CATSHL syndrome, a new family and phenotypic expansion
- Classification for congenital anomalies of the hand: the IFSSH classification and the JSSH modification
- Clinical Characteristics of 90 Macrodactyly Cases
- CLOVES Syndrome
- Diffuse Capillary Malformation With Overgrowth (DCMO): A Case Report and Literature Review
- Early Surgical Correction of the Nasal Deformity in Laurin-Sandrow Syndrome
- Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" <em>NSD1</em> Missense Mutation and Complex Skin Hamartoma
- Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma
- Expansion of the phenotypic and mutational spectrum of Carpenter syndrome
- Further phenotypic and genetic variation in ADULT syndrome
- Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
- Imaging features of humerus, radius and ulna rare malformation
- Intracranial calcification in oculodento-osseous dysplasia
- Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth
- Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome
- Macrocephaly-capillary malformation syndrome: three new cases
- Macrocephaly-capillary malformation: a report of three cases and review of the literature
- Macrocephaly-capillary malformation. A neonatal case
- Macrocephaly-cutis marmorata telangiectatica congenita
- Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review
- Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations
- Macrodactyly: report of eight cases and review of the literature
- Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP
- Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
- Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects
- Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway
- Oculodento-osseous dysplasia: heterogeneity or variable expression?
- Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)
- Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41
- Reconstruction of congenital differences of the hand
- Sclerosteosis - an autosomal recessive disorder
- Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia
- Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly
- Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3
- The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations
- The natural history of sclerosteosis