Trisomy 18 is a chromosomal syndrome characterized by a broad clinical picture, as well as a very reserved prognosis. The aim of our study was to verify the clinical characteristics and survival of patients diagnosed in a referral hospital in southern Brazil. Our sample consisted of 31 patients, 22 were female (71%), ages ranging from 1 to 1,395 days (median 14 days). The majority had a single cell lineage with full trisomy of chromosome 18 (94%). Concerning pregnancy complications, pre-eclampsia was the main abnormality described (17%). Fetal ultrasound was performed in 23 cases, and the most frequent abnormalities were polyhydramnios (41%) and intrauterine growth retardation (27%). There were no reports of prenatal identification of the syndrome. Most patients were born by cesarean due to pregnancy and fetal complications and about half of the cases were premature. Congenital heart defects represented the main major malformation observed (94%). Thirty patients (97%) progressed to death (survival ranged from 2 to 780 days, and 87% died within the first 6 months of life). Trisomy 18 is a serious chromosomal disorder with limited survival. Abnormalities of pregnancy appear to be frequent, which can lead to complications for both fetus and mother. The prenatal identification of these patients in our country is still inadequate, resulting in important implications for genetic counseling and management of these patients and their families. And this makes the possibility of interruption of pregnancy, regardless of ethical factors involved, an unlikely option.
OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS 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.
Moebius syndrome (OMIM 157900) is a rare congenital condition clinically characterized by congenital facial diplegia and sixth cranial nerve palsy. Dysfunction of other cranial nerves, malformations of orofacial structures, and limb anomalies may also be present. The etiology is not well defined and is heterogeneous [Briegel, 2006]. Causes include chromosomal abnormalities [Verzijl et al., 1999], and exposure to teratogens and vascular events during gestation [Bouwes-Bavinck and Weaver, 1986]. Most cases are sporadic; however, familial descriptions have been rarely reported [Briegel, 2006]. Herein, we describe a familial case of Moebius syndrome suggestive of an autosomal dominant inheritance and presenting with skeletal anomalies.The patient was a boy with facial palsy and involvement of other cranial nerves and clubfeet; his mother had similar features. He was the only son of young and nonconsanguineous parents. He was born at term, by cesarean, cephalic presentation, measuring 48 cm (25th centile), weighing 3,095 g (10th-25th centile), with head circumference of 36 cm (50th-98th centile) and Apgar score of 9 at 1st and 5th min. His pregnancy was uneventful. There was no history of vaginal bleeding or abdominal cramps. Fetal ultrasonographic evaluation performed at 33 weeks of gestation disclosed a pelvic presentation and normal amniotic fluid. The mother denied the use of smoke, alcohol or any potential teratogenic agent or attempts at abortion.The child needed to be hospitalized at 16 days of age due to fever and infection of the umbilical stump. He had difficulty closing the left palpebral eyelid, asymmetric crying facies, deep palmar creases, sacral dimple, bilateral restriction of hips and knees, clubfeet and preservation of the newborn reflexes. Radiographic evaluation showed right coxa vara, left hip luxation with poor definition of the acetabulum, hypoplastic ossification nucleous of the proximal femoral epiphysis, clubfeet and osteopenia. Brain ultrasound and computerized tomography scan, electroencephalogram, and TORCH serologies were normal. Echocardiography and abdominal ultrasound did not disclose any abnormality. Ophthalmologic assessment verified a left facial palsy, lagophthalmus, motility restriction of the left eye in all directions, and divergent strabismus (exotropia; Table I). Neurological evaluation showed preservation of upper limbs strength; due to limited motion the lower limbs could not be properly assessed. Electromyography showed moderate to severe, chronic and active dysfunction, of both facial nerves (major commitment at left). Right upper and lower limb motor conduction was within the normal range. Hearing was not tested, but no difficulty was noted. His serum muscle enzymes, as well GTG -banding karyotype (550 bands) were normal.Use of plaster casts for the lower limbs until the end of his first year of life was necessary. At 1 year and 3 months he measured 70 cm (<3rd centile), weighed 9,850 g (10th centile), and had a head circumference of 48 cm (50th centile). A ''mask-like'' ...
OBJETIVO: Relatar o caso de uma criança com neurofibromatose do tipo 1, apresentando o achado ocasional de múltiplas hiperintensidades e de lesão hamartomatosa pré-quiasmática no sistema nervoso central. DESCRIÇÃO DO CASO: Menino de tez escura de quatro anos, cujo pai apresentava manchas café-com-leite e história de cirurgia de tumor de ouvido. A criança evoluiu com um adequado desenvolvimento neuropsicomotor, sem crises convulsivas ou déficit de aprendizagem. Ao exame físico, possuía múltiplas manchas café-com-leite e efélides. A avaliação pela ressonância nuclear magnética de encéfalo evidenciou múltiplas imagens nodulares hiperintensas em T2 e Flair, com isossinal em T1, localizadas na substância branca dos hemisférios cerebrais, cerebelo e tronco cerebral. Apresentava ainda lesão hamartomatosa pré-quiasmática. A avaliação eletroencefalográfica e o exame neurológico eram normais. COMENTÁRIOS: As imagens hiperintensas verificadas na ressonância nuclear magnética correspondem aos chamados unidentified bright objects (UBOs), observados em de 60 a 70% das crianças com neurofibromatose do tipo 1, sendo raros em adultos. Sua etiologia e significado clínico ainda não são claros. Alguns estudos os têm associado à disfunção cognitiva, déficit neurológico e risco de malignização. Hamartomas localizados próximos ao quiasma óptico são incomuns, mas podem se relacionar à puberdade precoce. A avaliação do sistema nervoso central de crianças assintomáticas com neurofibromatose do tipo 1 é discutível. Contudo, nos casos em que UBOs sejam identificados, é importante considerar seu seguimento radiológico, especialmente diante de lesões múltiplas ou atípicas.
Trisomy 18 or Edwards syndrome is a chromosomal disease characterized by involvement of many organs and systems, and limited survival. 1 The aim of our study was to determine the frequency and types of major gastrointestinal abnormalities observed among patients withEdwards syndrome. The sample consisted of patients consecutively evaluated over the period between 1975 and 2008 in a clinical genetics service at a referral hospital in southern Brazil.Clinical data and karyotype results were gathered from this hospital's medical records. We useFisher's exact test (two-tailed) to compare frequencies (P values < 0.05 were considered significant). Thus, our sample was composed of 50 patients, of whom 33 (66%) were female. Their ages at the first evaluation ranged from 1 day to 16 years (median 14 days). Eight of the patients (16%) were born in that hospital.Presence of a single lineage with free trisomy of chromosome 18 was the main abnormality, observed in 90% of the cases. The remainder consisted of patients with mosaicism. Major gastrointestinal abnormalities were observed in eight patients (16%): two cases of esophageal atresia (4%), three of tracheoesophageal fistula (6%) (one associated with esophageal atresia), one of diaphragmatic hernia (2%) and three of omphalocele (6%). Among these eight patients, five (62%) were female. Their ages at the time of the initial evaluation ranged from one to 70 days (median 7.5 days). Only two patients (25%) presented a clinical suspicion of Edwards syndrome. Additional abnormalities, including minor and major anomalies, were observed in all cases. These included dysmorphic features like a clenched fist with overlapping fingers and major malformations like congenital heart defects. None had a chromosomal constitution with mosaicism. Three patients underwent surgical correction of their defects (one with esophageal atresia, one with tracheoesophageal fistula and one with omphalocele). In all cases, the diagnosis of Edwards syndrome was made only after surgery.Gastrointestinal malformations are frequent among patients with Edwards syndrome. In the literature, the frequency of esophageal atresia among these patients ranges from 16 to 18%. 2-4Despite the frequency of 4% observed in our study, no statistically significant difference was seen using Fisher's exact test when we compared it with these studies. However, it is noteworthy that the samples in other studies (n = 24 to 39 patients) were smaller than in ours (n = 50).Patients with esophageal atresia usually present the associated finding of tracheoesophageal fistula, 4,5 as observed in one of our two patients. Omphalocele has been described in less than 10% of the patients, 2-5 which is compatible with the rate in our study (6%). Despite the possible association described in the literature, 5 none of our patients with omphalocele presented a neural tube defect. Diaphragmatic hernia is considered to be a less common abnormality, and has been described in less than 8% of the patients. [2][3][4] This frequency was similar to our ...
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