Disease: Coloboma- cleft lip/palate and mental retardation syndrome
- <em>TXNL4A</em>-Related Craniofacial Disorders
- An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation
- B group short-arm deletion syndrome
- Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
- Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
- Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
- Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
- Further delineation of the Kapur-Toriello syndrome
- Human facial dysostoses
- Midface syndrome with iridochoroidal coloboma and deafness in a mother: microphthalmia in her son
- New case of the Richieri-Costa/Guion-Almeida syndrome
- Phenotypic and cytogenetic variability of patau syndrome in Morocco
- Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies
- Short stature, mental retardation, eye anomalies, and cleft lip/palate
- Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases
- Syndromes of facial clefting
- Systemic associations of uveal coloboma
- The nosology of Richieri-Costa/Guion-Almeida syndrome(s)
- Variability versus "incidental findings" in the first and second branchial arch syndrome: unilateral variants with anophthalmia
- Wolf-Hirschhorn syndrome
- Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case