Vera Lúcia Gil da Silva Lopes

Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed.

Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia

Considering the rarity of the frontonasal dysplasia (FD) and the few reports about it in a large casuistry using magnetic resonance image (MRI), we describe the results of the angular analysis of the corpus callosum of 18 individuals with FD (7 male, 11 female), using an easily-reproductive method. Group I had 12 individuals with isolated form and Group II had 6 individuals with FD syndromic with unknown etiology. The results are presented in set. Comparing with the control group, patients with FD presented alpha angle increase and beta and gamma angles reduction (p<0.05). Alpha and gamma angles express the relationship between the anterior portion of corpus callosum and the floor of 4th ventricle. Considering the embryonary development, these findings would occur secondarily to failure during the development of nasal capsula. Thus, angular anomaly in corpus callosum would be a usual finding, and not fortuitous in patients with FD.

Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs

We describe a 15-month-old girl born to a normal family and with non-consanguineous parents presenting with an unusual pattern of multiple congenital anomalies, including frontonasal dysplasia, neuronal migration error, lymphoedema of upper and lower limbs, and mild neuropsychomotor delay. Frontal and nasal haemangiomas, optic disc anomalies and hearing loss were also observed. This seems to be a previously undescribed syndrome of unknown aetiology.

Unusual nasal duplication in two patients

Here, we report two patients with different types of partial duplication of the nose. Both patients represented sporadic instances in their respective families. Parents were nonconsanguineous. Forpatient 1, pregnancywas complicatedbyfluandsinusitis during the second week. He had a prominent and wide forehead, mild hypertelorism, unilateral cleft lip palate, and a left-sided supernumerary nostril with a stenotic orifice. A rudimentary septum separated the two left-sided nostrils (Fig. 1). CT scan showed left-sided soft tissue duplication lacking communication with the nasal cavity and absent left choana (Fig. 2). Patient 2 had a frontonasal dysplasia phenotype with an irregularly shapedmass on the nasal dorsum (Figs. 3 and 4). A rudimentary septum and two blind-ended supernumerary nostrils were identified (Fig. 5). Nasal duplications, varying from accessory nostril to complete double nose have been reported by numerous authors [Erich, 1962; Onizuka and Tai, 1972; Nakamura andOnizuka, 1987; Reddy and Rao, 1987; Williams et al., 1988; Chen and Yeong, 1992; Jian et al., 1995; Kurul et al., 1995; Umeda et al.,

Importância da avaliação genético-clínica na hidrocefalia

The aim of this study was to characterize the possibility of genetic etiology in a group of individuals with congenital hydrocephalus in which the etiology was indeterminate and to confirm that earlier diagnosed. The casuistry was composed by 16 individuals with congenital hydrocephalus. Investigation protocol included anamnesis, familial investigation, physical examination, computerized tomography or magnetic resonance image of head, vertebral column X-ray, karyotype and dysmorphological study. Results were analyzed in two groups. In Group I (3M:9F) was composed by hydrocephalus associated with unspecific signs. Group II (7 males) had findings of epectrum of L1 disease. Genetic counseling could be offered in 11 cases. These results demonstrate the great etiological heterogeneity of congenital hydrocephalus and reinforce the importance of dysmphology evaluation as an important complementary investigation.

Description of clinical signs of Brazilian patients with the 22q11.2 Deletion Syndrome and comparison with different populations

22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion among humans. This syndrome presents several clinical manifestations and symptoms, which hampers its clinical diagnosis. In addition to a wide range of signs/symptoms, recent studies have indicated that the clinical presentation has been observed variable among different population groups. This study aimed to describe the main clinical signs of patients with 22q11.2 DS registered in the Brazilian Database on Craniofacial Anomalies/22q11.2 Deletion Syndrome (BDCA/SDEL22q) and compare the frequency of clinical signs of these with patient groups with the same condition from different populations.

Short tarsus — absence of lower eyelashes: an autosomal dominant condition

We describe a four‐generation Brazilian family with short tarsus and absence of the lower eyelashes, with normal intelligence. Autosomal dominant inheritance is evident.