Craniofacial abnormalities among patients with Edwards
					Syndrome

This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records.

RESULTS:

The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome.

CONCLUSIONS:

Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

chromosomes, human, pair 18; trisomy; chromosome aberrations; craniofacial abnormalities; Goldenhar syndrome

Studies	Score Marion et al⁽¹⁵⁾	Present study	Taylor⁽¹⁶⁾	Le Marec et al⁽¹⁷⁾	Hodes et al⁽¹⁸⁾	Kinoshita et al⁽¹⁹⁾	Sugayama et al⁽²⁰⁾	Lin et al⁽²¹⁾	Hsiao et al⁽²²⁾
Sample (n)		50	27	20	29	31	24	39	31
Findings		(%)	(%)	(%)	(%)	(%)	(%)	(%)	(%)
Skull
Prominent occiput	5	52	–	–	69	>50	88	72	55
Bitemporal narrowing	5	10	–	–	–	–	–	≤8	–
Microcephaly	3	8	8	–	72	–	100	56	52
Encephalocele	–	4	–	–	–	–	4	–	–
Face
Facial paralysis	–	4	–	–	–	–	–	≤8	–
Asymmetrical face	–	2	–	–	–	–	–	–	–
Triangular		6	–	–	–	–	–	18	–
Eyes
Short palpebral fissures/blepharophimosis	5	46	–	–	28	< 50	80	21	22
Epicanthus	3	16	41	–	14	–	17	≤8	–
Upward slanting palpebral fissures	1	10	–	–	14	–	–	–	–
Downward slating palpebral fissures	1	8	–	–	10	–	–	–	–
Microphthalmia	–	6	27	–	31	–	–	≤8	–
Iris abnormality	1	4	–	–	–	–	–	–	–
Hypoplastic supraorbital ridges	3	4	–	–	–	–	75	–	–
Ptosis	–	2	–	–	–	–	–	–	–
Corneal clouding	3	6	–	–	3	–	–	13	16
Hypertelorism	–	2	81		–	–	–	33	–
Nose
Hypoplastic nasal root	–	6	–	–	–	–	–	–	–
Prominent nasal bridge	–		–	–	–	–	–	10	–
Choanal atresia	1	–	–	–	–	–	–	10	13
Mouth
Microretrognathia	5	76	92	95	86	>50	100	64	58
High/ogival palate	5	22	–	70	48	< 50	92	38	–
Microstomia	–	14	–	15
Cleft lip and/or palate	1	12	15	15	3	< 50	–	≤8	–
Limitation of mouth opening	5	–	–	–	–	–	–	–	–
Ears
Abnormalities of the ear helix/dysplastic ears	5	70	88	100	100	>50	100	90	71
Retroverted ears	–	46	–	–	–	–	–	–	–
Low-set ears	5	44	92	95	–	>50	–	90	71
Microtia	–	18	–	–	–	–	–	–	–
Preauricular appendages	–	10	–	–	–	–	–	–	–
Absence of external auditory canal	–	2	–	–	–	< 50	–	–	–
Neck
Short neck	–	26	62	–	14	< 50	–	-	–
Redundant skin at the nape	–	16	31	–	21	< 50	–	21	–

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