of Micro- and Retrognathia on the Neonatal Airway
Fig. 1 The “domino effect” of Pierre Robin sequence (Courtesy of David Low, MD) The triad of micrognathia, glossoptosis, and tongue-based airway obstruction (TBAO) was initially described in 1939 by…
of the Midface
Fig. 1 Midfacial Disorders: History and Physical Examination Initial assessment of an infant with respiratory distress should focus on the ability of the child to maintain ventilation and oxygenation. Signs…
Laryngomalacia: Disease Spectrum and Management
Fig. 1 Fiberoptic flexibible laryngoscopy with endoscopic evaluation of swallowing in a 2-month infant with laryngomalacia. Typical anatomic features including shortened aryepiglottic folds, bilateral supraarytenoid prolapse, posterior glottic edema, and…
Retinal Anomalies
6 Retinal Anomalies BEST’S DISEASE Barry N. Wasserman Etiology An autosomal dominant disorder also called vitelliform macular dystrophy, Best’s disease leads to retinal pigment epithelium (RPE) degeneration and secondary loss…
Congenital Corneal Opacity
2 Congenital Corneal Opacity Bruce Schnall and Michael J. Bartiss The differential diagnosis for congenital corneal opacity can be remembered using the pneumonic STUMPED: Sclerocornea Tears in Descemet’s membrane or…
Iris Anomalies
4 Iris Anomalies Michael J. Bartiss and Bruce M. Schall CENTRAL PUPILLARY CYSTS (PUPILLARY MARGIN EPITHELIAL CYSTS) Etiology Usually congenital in origin Can be acquired from cholinesterase inhibiting eye drops,…
Strabismus Disorders
9 Strabismus Disorders Scott E. Olitsky and Leonard B. Nelson PSEUDOESOTROPIA Epidemiology and Etiology Pseudoesotropia is one of the most common reasons an ophthalmologist is asked to evaluate an infant….
Eyelid Anomalies
7 Eyelid Anomalies Kammi B. Gunton ANKYLOBLEPHARON Etiology Ectodermal dysplasia, otherwise unknown In ankyloblepharon–ectodermal dysplasia– clefting (AEC) patients, a defect in the TP63 gene, an epidermis intercellular junction regulator protein,…
Lens Anomalies
5 Lens Anomalies CONGENITAL AND DEVELOPMENTAL CATARACTS Jonathan H. Salvin and Hillary Gordon Cataracts are an opacification of the lens of the eye, typically associated with age. Congenital cataracts may…
