Eyes
Anophthalmos: there are no eyes; rare; part of trisomy 13-15. Ectopia lentis: presents as glaucoma with poor vision. The lens margin is visible; seen in Marfan's (OHCM), Ehlers-Danlos, homocystinuria; incidence: <1/5000; autosomal-dominant (a-Dom) or recessive (a-R).
Cataract: rubella, Down's, others: recessive or sex-linked.
Coloboma: notched iris with a displaced pupil; incidence: 2/10,000; (a-R).
Microphthalmos: small eyes; 1/1000; due to rubellaor genetic (a-Dom).
Ears
Accessory auricles: seen in front of the ear; incidence: 15/1000. Deformed ears: Treacher-Collins' syndrome. Low-set ears: associationsDown's syndrome; congenital heart disease.
Nose/throat
Choanal atresia
Signs: postnatal cyanotic attacks; nasal catheter doesn't go into the pharynx because of nasal malformation. Incidence: 1/5000. Surgery: consider a micro-endoscopic nasal approach.
Congenital laryngeal stridor
(µlaryngeal webs or laryngomalacia: the larynx is unable to stay open). Signs: shrill inspirations; dyspnoea. Surgery: endoscopic.
Laryngeal atresia
Breaths don't expand the lungs, which are hypoplastic. Look for co-existing anomalies. Branchial fistula: These open at the front of sternomastoid (a remnant of the 2nd or 3rd branchial pouch). Incidence: <1/5000.
Skull & spine
Brachycephaly
Short, broad skull from early closure (craniostenosis) of the coronal suture; incidence: <1/1000; Down's-associated or a-Dom.
Cleidocranial dysostosis
No clavicles (so shoulders meet). Slow skull ossification, no sinuses, high-arched palate; incidence <1/5000; a-Dom.
Craniofacial dysostosis
Tower skull, beaked nose, exophthalmos. Δ: spiral CT. Klippel-Feil syndrome: fused cervical vertebra (so the neck is short).
CNS
Hydrocephalus: incidence 0.3-2/1000. Ante- or neo-neonatal injury, infection, or genes (sex-linked) may cause aqueduct stenosis. Dandy-Walker syndrome; Arnold-Chiari malformation.
Microcephaly
Causes: genetic, intrauterine viruses (eg rubella), hypoxia, x-rays, maternal alcohol. Incidence: 1/1000. Recurrence risk: 1/50.
Fetal alcohol syndrome
Severity depends on how much alcohol the mother has had in pregnancy. Features: microcephaly, short palpebral fissure, hypoplastic upper lip, absent philtrum, small eyes, IQ, cardiac malformations.
Advertisements
