Disease: Ptosis coloboma mental retardation
- A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia
- A new syndrome with ptosis, coloboma and mental retardation
- Baraitser and Winter syndrome with growth hormone deficiency
- Baraitser-Winter cerebrofrontofacial syndrome
- Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
- Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes
- Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome
- CHARGE association: report of a case with literature review
- Classification of chromosomal eye syndromes
- Complex limbal choristomas in linear nevus sebaceous syndrome
- Congenital glaucoma associated with Rubinstein-Taybi syndrome
- Dealing with congenital hepatic fibrosis? Remember COACH syndrome
- Eye manifestations of fetal alcohol syndrome
- Fetal alcohol syndrome--an ophthalmological and socioeducational prospective study
- First Report of Mexican Patients with <em>PACS1</em>-Related Neurodevelopmental Disorder and Review of the <em>PACS1</em>-, <em>PACS2</em>-, and <em>WDR37</em>-Related Ophthalmological Manifestations
- Human facial dysostoses
- Iris coloboma, ptosis, hypertelorism, and mental retardation
- Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome
- Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2
- Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
- Joubert Syndrome
- Kaufman Oculocerebrofacial Syndrome
- Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?
- Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome
- Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis
- New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities
- New ocular finding in Baraitser-Winter syndrome (BWS)
- Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum
- Ocular findings in children with nonsyndromic cleft lip and palate
- Ocular findings in triploidy
- Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia
- Ocular manifestations in Wolf-Hirschhorn syndrome
- Ocular manifestations of mosaic trisomy 22: a case report and review of the literature
- Ocular manifestations of the Rubinstein-Taybi syndrome. Case report and review of the literature
- Ophthalmic manifestations of Smith-Magenis syndrome
- Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
- Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation
- Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation
- Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome
- Ptosis, coloboma, hypertelorism and mental retardation
- Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
- Rubinstein-Taybi syndrome with multiple keloids
- Short stature, mental retardation, eye anomalies, and cleft lip/palate
- Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
- Temtamy-like syndrome associated with translocation of 2p24 and 9q32
- The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in <em>ACTB</em> Diagnosed Via Targeted Gene Panel Sequencing and Literature Review
- The nosology of Richieri-Costa/Guion-Almeida syndrome(s)
- The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature
- Unusual ocular anomaly in 9 p trisomy: retinal depigmentation
- X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome