• <em>PORCN</em>-Related Developmental Disorders
• A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family
• A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome
• Bilateral coloboma of the upper eyelid & eyebrows in a rare case of congenital malformation
• Bilateral coloboma of the upper eyelid &amp; eyebrows in a rare case of congenital malformation
• Bilateral corneal dermoids associated with bilateral choroido-scleral colobomas in a cat: retinographic and optical coherence tomography study with surgical outcome and follow-up
• Branchiooculofacial Syndrome
• Brief clinical report: dup(4p15 leads to 4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation
• Case of multiple ocular malformations (palpebral coloboma, ectopy of the eyelashes, sclerocornea and aberrant lacrimal gland)
• CHARGE Association
• CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids
• Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report
• Congenital upper eyelid coloboma with ipsilateral eyebrow hypoplasia
• Cryptophthalmia and associated malformations in a consanguine African milieu (South Mauritania)
• Cryptophthalmia: one-stage reconstruction
• Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome
• Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis
• Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature
• Epidermal nevus syndrome and didymosis aplasticosebacea
• Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome
• Focal dermal hypoplasia (Goltz's syndrome)
• Hallermann-Streiff syndrome. A case report
• Heterochromia
• Heterochromia
• How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies
• Inheritance of microphthalmia with coloboma in the Australian shepherd dog
• KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans
• Loose anagen hair syndrome associated with colobomas and dysmorphic features
• Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion
• Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases
• Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome
• Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome
• Mild case of Curry-Jones syndrome
• Minimal access cochlear implant fixation: temporalis pocket with a plate
• Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins
• Mosaic monosomy 14: clinical features and recognizable facies
• Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome
• New autosomal dominant branchio-oculo-facial syndrome
• New familial association between ocular coloboma and loose anagen syndrome
• New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians
• Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature
• Ocular abnormalities in the median cleft face syndrome
• Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia
• Ocular manifestations of the Rubinstein-Taybi syndrome. Case report and review of the literature
• Ocular, naso-maxillary, and neural anomalies in raccoons, Procyon lotor (L.)
• Ophthalmic findings in Setleis syndrome: two new cases in a mother and son
• Pseudoprogeria-Hallermann-Streiff (PHS) syndrome
• Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap
• Review of accessory tragus with highlights of its associated syndromes
• Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders
• Surgical repair of congenital colobomas
• The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia
• The role of Pax2 in mouse inner ear development
• Three cases of a new congenital oculocutaneous syndrome--abberant lacrimal gland, abberant cartilage, upper lid coloboma, gap in eye brow, alopecia, and naevus
• Tissue-limited mosaicism for monosomy 13
• Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia
• Unilateral giant coloboma of the upper eyelid associated with other congenital anomalies (33 years follow-up of surgical repair)
• Use of free oral mucosal graft for treatment of feline eyelid agenesis in seven patients
• Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities