Disease: Arachnodactyly mental retardation dysmorphism
- 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
- 5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly
- A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome
- A case of de novo duplication of 15q24-q26.3
- A CASE OF OLIGOPHRENIA ASSOCIATED WITH ARACHNODACTYLY FOLLOWING CONGENITAL TOXOPLASMOSIS
- A case with mega cisterna magna renal and ear anomalies: is this a new syndrome?
- A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability
- A GENETICAL VIEW OF CARDIOVASCULAR DISEASE. THE LEWIS A. CONNER MEMORIAL LECTURE
- A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
- A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias
- A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
- A small de novo 16q24.1 duplication in a woman with severe clinical features
- Additional case of craniofacial and digital anomalies as reported by Harrod et al
- Anaesthetic management of two paediatric patients with Hecht-Beals syndrome
- Arachnodactyly and mental retardation
- Arachnodactyly associated with mental disorders
- Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones
- Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis
- Characteristic facial dysmorphism, arachnodactyly and mental handicap in two unrelated girls: a distinct MCA/MR syndrome?
- Characteristic facial dysmorphism, arachnodactyly and mental retardation: another case
- CHROMOSOME ABERRATIONS
- CHROMOSOME ABNORMALITIES IN PEDIATRICS (WITH THE EXCEPTION OF MONGOLISM AND SEX ANOMALIES)
- Clinical and biochemical studies in homocystinuria
- Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome
- Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report
- CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
- De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review
- Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders
- Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence
- ELASTOSIS PERFORANS SERPIGINOSA WITH OSTEOGENESIS IMPERFECTA
- Emanuel syndrome due to unusual segregation of paternal origin
- Fetal alcohol syndrome--case report
- GENETIC PROGNOSIS AND COUNSELING
- Haspeslagh syndrome without severe mental retardation and pterygia?
- HEREDITARY BIOCHEMICAL DEFECTS IN MAN
- Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: new entity?
- HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS
- In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
- INFANTILE HYPOTONIA: A CLINICAL STUDY
- Intrachromosomal triplication for the distal part of chromosome 15q
- Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene
- Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability
- Marfanoid features and craniosynostosis: report of one case and review
- Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case
- Non-bullous ichthyosiform erythroderma associated with retinitis pigmentosa
- Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review
- Ochronosis; metastasis in the choroid in a case of mammary carcinoma; Hans-Schüller-Christian lipoidosis; arachnodactylia
- Ocular signs in diseases of infancy and childhood
- ON 3 CASES OF OCULO-DIENCEPHALIC MALFORMATION
- PARTIAL TRISOMY 5p12-q 11.2 RESULTING FROM A MARKER CHROMOSOME: A NEW CASE REPORT WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER
- PATHOLOGICAL FINDINGS IN HOMOCYSTINURIA
- Pontocerebellar hypoplasia in two siblings with dysmorphic features
- Prader-Willi Syndrome Coincident with DiGeorge Syndrome
- Prader-Willi syndrome: clinical and molecular cytogenetic investigations
- Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance
- Problems of psychiatric symptomatology in the course of arachnodactyly (Marfan's syndrome)
- Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years
- Shprintzen-Goldberg syndrome with plagiocephaly: A case report
- Shprintzen-Goldberg Syndrome: A Rare Disorder
- SUPRAVALVAR AORTIC STENOSIS ASSOCIATED WITH MENTAL AND PHYSICAL RETARDATION AND A CHARACTERISTIC FACIES
- SUPRAVALVULAR AORTIC STENOSIS AS A SINGLE ANOMALY AS WELL AS A COMPONENT OF A SYNDROME IN MENTALLY RETARDED DYSPLASTIC PATIENTS
- Surgical treatment for kyphoscoliosis in Cohen syndrome
- Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation
- The C.C.A. syndrome (congenital contractural arachnodactyly): a new differential syndrome for Marfan's syndrome and homocystinuria
- The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension
- The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome
- The spectrum of arthrogryposis in 33 chinese children
- Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen-Goldberg syndrome
- Transient progeroid phenotype and lipodystrophy in mosaic polyploidy
- Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation
- Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan
- van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers
- VASCULAR THROMBOSES IN CEREBRAL AND PERIPHERAL LOCALIZATIONS IN AN ENCEPHALOPATHIC PATIENT WITH SUBVALVULAR AORTIC STENOSIS AND ECTOPIA OF THE CRYSTALLINE LENS, CALLING TO MIND MARFAN'S SYNDROME