Genetic Center Filatov's Child Clinical Hospital © 2001-2004 Vladimir Solonichenko MD, Clinical Geneticist,© E-mail:
First Author - References ( Abstracts )
Al-Gazali - An AR syndrome of nasal anomalies associated with renal and anorectal malformations
Al-Gazali - An autosomal recessive syndrome of choanal atresia, hypothelia-athelia and thyroid gland anomalies ...
Baala - ...a novel syndromic ichthyosis to chromosome 3q27-q28
Basel-Vanagaite - Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities ...
Bates - Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis
Berger - Familial lipodystrophy associated with neurodegeneration and congenital cataracts
Brady - Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis
Brkanas - A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter
Carney - Familial paraganglioma and gastric stromal sarcoma ...
Choi - Muscle dysmorphia-a new syndrome in weightlifters.
Davis - Progressive extensive osteoma cutis associated with dysmorphic features ...
Delague - A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) ...
Delrue - Association of ectrodactyly and distal phocomelia
Divizia - Auriculo-condylar syndrome or new syndrome
Elliot - Spectrum of dolichospondylic dysplasia-Two new patients with distinctive findings.
Evans - Tibial agenesis with radial ray and cardiovascular defects
Ficher - Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
Figuera - Guadalajara camptodactyly type III ...
Franceschinin - A mentally retarded female with distinct facial dysmorphism, joint laxity, clinodactyly and abnormal dermatoglyphics
Fuentes-Pelier - Bilateral congenital glaucoma, corneal opacity, hypertelorism and holoprosencephaly in a microcephalic child ...
Gates - A syndrome of hereditary pancreatic adenocarcinoma and cysts of the liver and kidney
Giltay - Split hand-split foot, iris-choroid coloboma, hypospadias and subfertility ...
Goodship - Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment...
Grosso - Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss...
Gul - Unilateral split foot, torticollis, congenital heart defect and hydrocephaly ...
Gulati - Hypothalamic hamartoma, gelastic epilepsy, precocious puberty ...
Hedera - Novel autosomal dominant mandibulofacial dysostosis with ptosis ...
Hedera - Spastic paraplegia, ataxia, mental retardation (SPAR) ...
Hiyasat - Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature - ( D-CHRAMPS syndrome )
Huang - Four cases with hypoplastic thumbs and encephaloceles.
Hundt - A new disorder of lymphocyte apoptosis-combination of autoimmunity, infectious lymphadenopathy, double negative T cells, and impaired activation-induced cell death
Kaissi - Hypohidrotic ectodermal dysplasia with tibial aplasia.
Kantaputra - A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies ...
Kantaputra - A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch ...
Kantaputra - Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings
Kantaputra - Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies...
Katz - Hereditary gingival fibromatosis with distinct dental, skeletal and developmental abnormalities.
Kelley - Amish lethal microcephaly - a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
Khalifa - New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities.
Kinton - Partial epilepsy with pericentral spikes - a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.
Koklu - Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS).
Lacassie - Provisional new syndrome of MR-MCA with evolving phenotype.
Le Caignec - Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.
Lemire - Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies.
Levy - Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness ...
Marble - Scalp defects, polythelia, microcephaly, and developmental delay ...
McLean - A new defect of peroxisomal function involving pristanic acid ...
Megarbane - An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.
Megarbane - Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls ...
Megarbane - Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p-11q translocation.
Megarbane - Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.
Megarbane - Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms.
Megarbane - Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification ...
Megarbane - Tibial-femoral hypoplasia with hook pelvis - a potentially unique dysostosis.
Nahan - Autoimmune lymphoproliferative syndrome associated with severe humoral immunodeficiency and monoclonal gammopathy.
Neitzel - Premature chromosome condensation in humans associated with microcephaly and mental retardation ...
Okamoto -Autosomal dominant palatal myoclonus and spinal cord atrophy.
Pandhi - A rare association of epidermal nevus syndrome and ainhum-like digital constrictions.
Panigrahi - Mental retardation, ptosis and polydactyly ...
Parisi - Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses ...
Passos-Bueno - Craniosynostosis associated with ocular and distal limb defects ...
Peters - Congenital disorder of glycosylation IId (CDG-IId) - clinical presentation with Dandy-Walker malformation and myopathy.
Sazgar - Intracranial calcification, retinopathy, and osteopenia ...
Scheffer - X-linked myoclonic epilepsy with spasticity and intellectual disability...
Scheper - Tourette syndrome, growth retardation, and platyspondyly - an entity
Schmiady - Arrest of human oocytes during meiosis I in two sisters of consanguineous parents ...
Schoderet - Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation
Schwarz - Two siblings with a new Aicardi-Goutieres-like syndrome.
Shanske - ...microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias ...
Sharony - Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart ...
Shotelersuk - Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.
Siegel-Bartlet - Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters ...
Slavotinec - Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features ...
Steiner - Combination of diaphragmatic eventration and microphthalmia-anophthalmia is probably nonrandom.
Sugie - Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis ...
Tanew - Hereditary, focal, transgressive palmoplantar keratoderma with associated clinical findings
Toriello - Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells ...
Tuysus - Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.
van der Knaap - New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.
Van Steensel - New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis ...
Vargel - Hereditary intraosseous vascular malformation of the craniofacial region ...
Verloes - Spondylometaphyseal dysplasia, east-African Type - A new form of early, severe SMD with rounded vertebrae.
Vermeulen - Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.
Wieczorek - Absence of thumbs, A-hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.
Witters - MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Mullerian duct anomalies.
Zvulunov - A new variant of autosomal recessive exfoliative ichthyosis.
