Disease: Mental retardation microcephaly unusual facies
- A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities
- A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1
- A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency
- A syndrome with multiple malformations, mental retardation, and ACTH deficiency
- Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants
- An unusual short stature syndrome
- Bird-headed dwarf of Seckel
- CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
- Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases
- Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex
- Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndrome
- Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype
- De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features
- Dominantly inherited syndrome of microcephaly and cleft palate
- Dubowitz syndrome: a cholesterol metabolism disorder?
- Dubowitz syndrome: long-term follow-up of an original patient
- Ectrodactyly and proximal/intermediate interstitial deletion 7q
- Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
- Growth charts for individuals with Rubinstein-Taybi syndrome
- Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype
- Intellectual disability, unusual facial morphology and hand anomalies in sibs
- Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
- Interstitial 7q deletion [46,XY,del (7) (pter----cen::q112----qter)] in a retarded quadriplegic boy with normal beta glucuronidase
- Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs
- Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome
- Microcephaly, unusual nose, cutaneous syndactyly, and mental retardation
- Multiple coagulation defects and the Cohen syndrome
- Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion
- Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies
- Psychomotor retardation with neutropenia for more than one year in a toddler
- Radiological features in Brachmann-de Lange syndrome
- Rett syndrome: a study of the face
- Rubinstein-Taybi syndrome: objective evaluation of craniofacial structure
- Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant?
- Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
- Sibs with tetrasomy 18p born to a mother with trisomy 18p
- Smith-Lemli-Opitz syndrome: review and report of two affected siblings
- Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion
- Submucosal Supernumerary Smooth Muscle Coat: A Common Histologic Finding in Mowat-Wilson Syndrome With or Without Hirschsprung Disease
- Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome
- The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation
- Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome
- Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene
- Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?
- Witteveen-Kolk syndrome: The first patient from Turkey
- Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case
- X-linked cubitus valgus with mental retardation and typical face
- X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family
- Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus