Neuropsychomotor Delay Research Articles

Síndrome de Lowe: Um estudo de caso

This study highlights the complexity of Lowe's syndrome, also known as oculocerebrorenal syndrome (OCR), first described by Lowe in 1952, is a rare genetic condition that primarily affects the eyes, brain, and kidneys. Genetic diagnosis, although possible, is often limited by the costs and slowness of the public health system. Thus, diagnosis is often based on clinical criteria and laboratory tests. The prevalence is estimated at 1 in 500,000 in the general population. The case report presents LG, a child with Lowe's Syndrome with neuropsychomotor delay, congenital cataract and glaucoma. The transdisciplinary team, composed of diverse healthcare professionals, has taken a holistic approach to addressing the complex clinical and therapeutic challenges of the syndrome. The therapeutic interventions focused on improving the quality of life, highlighting the importance of speech therapy and the need for early intervention integrated with a transdisciplinary approach, in addition to the active inclusion of the family in the therapeutic process. The study emphasizes the crucial role of third sector institutions in supporting populations in vulnerable situations and highlights the need for articulation between institutions and the public health system.

Iron Deficiency in Young Children Beyond Anemia: Clinical Features, Maternal Factors, and the Predictor for Neuropsychomotor Development Delay

Introduction: Iron deficiency (ID) is the most common micronutrient deficiency in children and is prevalent in young children, especially in those with long-term exclusive breastfeeding (BF). Iron deficiency anemia (IDA), the most common type of pediatric anemia, while it is not the only clinical manifestation of ID. In Taiwan, prevalence of IDA was up to 23% in child-bearing women. It was reported that the iron levels in the breast milk of IDA mothers were markedly lower than that of non-IDA mothers. ID alone in young children can cause neurocognitive development symptoms, including inattention, psychomotor delay, cognition impairment, pica, etc, in children. However, clinical reports on ID, not IDA, are relatively few. We aimed to investigate the clinical features and influencing factors of ID in young children. Methods and Materials: There were 33 young children diagnosed as ID at outpatient department at Taipei Medical University Hospital from 2017 to 2019. The charts were retrospectively reviewed and clinical data were collected, including diagnostic age, initial symptoms, periods of breast-feeding (BF), hemoglobin (Hb), mean corpuscular volume (MCV), serum ferritin (SF), serum iron, total iron binding capacity (TIBC), zinc levels, thalassemia survey, duration of iron supplement, and laboratory improvement after iron supplement. Whether there were neuropsychomotor (NPMD) delay depended on the chart record of doctors of pediatric rehabilitation. Results: The median age of ID diagnosis was 2.5 years (range: 5 month－7.17 years). There were 31 (94%) of ID children initially presented with either koilonychias, picky eating, or poor appetite. 24 (72.7%) were found to have koilonychias, and among them, 18 (54.5%) had flat nails and 6 (18.2%) had spoon nails. 17 (51.5%) were picky eaters, 16 (48.5%) had poor appetite, 7 (21.2%) had pale nails, and 3 (9.1%) had pica. 11 (33.3%) had NPMD delay. The median duration of BF was 10.8 months (range: 0 to 36). There were 12 (36.4%) children whose mother had IDA. The median Hb was 11.2 g/dL (IQR: 10－12.65), median MCV was 76.45 fL, median SF level was 25 ng/mL (IQR: 13.25－45.5), and median transferrin saturation was 9.25% (IQR: 7－12.88). The median serum zinc level at diagnosis of ID was 66.4 μg/dL. In addition, 21 (63.6%) has concurrent zinc deficiency, 10 (30.3%) had pediatric IDA, and 2 (6.3%) had combined thalassemia trait. The median (IQR) duration of iron supplement is 3 (3-6) months. After treatment, patients' data revealed a significant increase in median Hb of 12.6 mg/dL, median MCV of 78.7 fL, median SF of 47 ng/mL, and median transferrin saturation of 15.35%. By correlation analysis, breastfeeding duration was also moderately correlated to SF level (Pearson rank=-0.5224). Maternal IDA history also had a negative correlation to SF level in ID children (Pearson rank=-0.4053). By multivariate linear regression (MVLR) analysis, breastfeeding duration and maternal IDA history were identified as significantly inverse predictors for SF levels in ID children. ID children with NPMD delay had significantly higher rate of concurrent zinc deficiency. By MVLR analysis, serum zinc level was identified as a significant inverse predictor for NPMD delay among ID children (Odd's ratio: 0.89, 95%CI: 0.799-0.991, p-value=0.0336*). Conclusion: Our results highlighted the clinical features of ID in infants and children. A high proportion of ID children had maternal IDA history (36.4%) and NPMD delay (33.3%). Iron supplementary was effective to improve ID. Breastfeeding duration and maternal IDA history can negatively impact SF level in ID children. Good levels of serum zinc in ID children can predict lower risk of NPMD delay. Disclosures : No relevant conflicts of interest to declare.

Infantile Spasms and Developmental Delay: A Case of Miller–Dieker Syndrome

Background: Miller–Dieker syndrome (MDS) is a rare genetic disorder, due to contiguous gene deletion on chromosome 17p13.3, characterized by classical type I lissencephaly, severe developmental delay, seizures, cardiac defects, and dysmorphisms. West syndrome is a severe form of epilepsy with epileptic spasms, hypsarrhythmia in electroencephalogram (EEG), and neuropsychomotor delay. Herein, we describe the neurophysiological and neuroimaging findings of a patient with MDS with associated West syndrome. Clinical Description: A 5-month-old boy was brought with new-onset infantile spasms and a history of delay and some regression in milestones. Facial dysmorphism was noted in the form of a prominent forehead, bitemporal hollowing, short nose with upturned nares, thickened upper lip, long philtrum, low-set ears, and hypertelorism. There was hypotonia of all four limbs. Management and Outcome: An EEG showed hypsarrhythmia, and the magnetic resonance imaging brain revealed hypoplastic sulci with pachygyria and smooth cortical surface of supratentorial brain parenchyma – features suggestive of lissencephaly type 1. Echocardiography showed atrial septal defect and minimal pericardial effusion. Whole-exome sequencing showed a contiguous large heterozygous deletion on chromosome 17 which was suggestive of Miller–Dieker lissencephaly syndrome. Parents were counseled, and the spasms were treated with an injection adrenocorticotropic hormone and oral vigabatrin. Conclusion: Structural brain abnormalities are well-known causes of infantile spasms. MDS is a severe malformative condition, lissencephaly being the hallmark of this disorder. This case report will create awareness among pediatricians regarding this rare condition with a characteristic combination of clinical features, which can be confirmed by brain imaging and genetic analysis.

West Syndrome – Infantile Spasms: A Rare Paediatric Case Report

West syndrome (WS) is a rare, severe form of epilepsy with onset in infancy and early childhood. It involves clustered epileptic spasm episodes, the aberrant interictal electroencephalogram pattern known as hypsarrhythmia, and neuropsychomotor delay. In this view, we present a case of a 6-year-old female child a known case of west syndrome, global developmental delay, hypothyroidism, and post-operative laparoscopic gastrotomy performed under general anaesthesia on March 31/2022, in view of recurrent aspiration and came with the chief complaints of seizure 6-7 episodes per day, decreased urine output, constipation for two days, straining to pass urine, and three episodes of vomiting. The history included that the baby cried immediately after birth, seizure on day 5 of life, and was shifted to the Neonatal intensive care unit (NICU), admitted there for 5 days because of respiratory distress syndrome and hyperalbuminemia. During their stay in the hospital, the child has been prescribed Lamotrigine 50mg, Levocarnitine 500mg, Levetiracetam 250mg, Clobazam 5mg, Phenobarbital 60mg, Sodium Valproate 100mg, Thyronorm 50mcg. Now the patient is symptomatically better. This case report intends to sensitize physicians in this region toward this rare neurological syndrome.
 Keywords: Hypsarrhythmia, Infantile, Seizure, West syndrome.

Síndrome de Cornélia de Lange: relato de caso

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder, caused by variants of cohesin complex genes. The disease is characterized by multiple congenital anomalies, which include distinctive facial features, prenatal and postnatal growth deficiency, neuropsychomotor delay, gastroesophageal reflux disease and upper limb malformations. We describe the case of a male patient who presented phenotypic alterations compatible with the classic form of CdLS. The diagnosis can be clinically determined even in the absence of molecular confirmation. Orogastric tube and admission to a neonatal Intensive Care Unit were necessary due to difficulties with suction. Subsequently, the patient underwent gastrostomy. In patients with CdLS, strict monitoring of weight gain, cardiac and urinary tract malformations and visual and hearing deficits is essential.

Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant: Evidence for an abnormal protein function

Marshall-Smith syndrome (MSS) is a rare genetic condition characterized by different clinical features, such as accelerated skeletal maturation, growth retardation, neuropsychomotor delay, and characteristic facial abnormalities. This study describes a 2-year-old boy presenting longiline appearance, macrocephalus with trigonocephaly, prominent eyes with bluish sclera, middle face hypoplasia, micrognathia, dysplastic ears, hirsutism, narrow and asymmetrical thorax, hypoplastic scrotal sac, cryptorchidism, joint laxity, hypoplastic toenails, and large sacral dimple with prominent coccyx. Abdominal ultrasonography showed an enlarged left ectopic kidney and skull computed tomography revealed signs of early closure of the metopic suture. High-resolution GTG banding karyotype and high-density CytoScan HD array did not identify abnormalities associated to the patient clinical findings. NFIX sequencing revealed a de novo variant consisted of a seven nucleotides duplication in exon 8. We suggest that some clinical findings, as glaucoma, trigonocephaly and ectopic kidney are underestimated and should be considered within the clinical spectrum of the syndrome. In addition, the NFIX variant identified in our patient is unusual among patients with MSS and has not yet been described in the literature. We present some mechanisms that could be involved in the impairment of proper NFIX protein function.

Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation

Holoprosencephaly is the most common brain malformation in humans and it is a complex genetic disorder. We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. The patient was a 1 year and 4 months old girl that developed an important neuropsychomotor delay. Currently, she uses a wheelchair to move around and only emits sounds. Computed tomography (CT) scan revealed a semilobar holoprosencephaly and a Dandy-Walker variant. Head magnetic resonance imaging also disclosed corpus callosum agenesis and prefrontal subarachnoid space enlargement. On physical examination at 1 year and 4 months of age, we verified growth retardation, microcephaly, bilateral epicantic fold, upslanting palpebral fissures, bifid nose, and limbs spasticity secondary to hypertonia. Later, she began to present hypernatremia; however, its precise cause was not identified. At 6 years and 10 months of age, a nasal fistula was suspected. Facial CT scan showed an epidermal cyst at cartilaginous portion of the nasal septum. High resolution GTG-Banding karyotype was normal. However, molecular analysis through direct sequencing technique showed a mutation at regulatory region of the ZIC2 gene: c.1599*954T > A, a genetic variation previously described only in a Brazilian patient. Our patient presented findings still not reported in literature among patients with holoprosencephaly, including those with ZIC2 mutations. Thus, the spectrum of abnormalities associated to ZIC2 mutations may be broader and include other defects as those observed in our patient.

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA

Williams-Beuren syndrome (WBS) is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems. Objectives. To report the clinical findings of 55 Brazilian patients confirmed by multiplex ligation-dependent probe amplification (MLPA). Methods. Patients were followed up for 4 years at the Genetics Unit of the Instituto da Criança of the Hospital das Clínicas, FMUSP, Brazil. A kit specific for WBS was used to detect the 7q11.23 microdeletion. Results. Two patients with negative FISH results had positive MLPA results for WBS. The characteristics of the patients with the deletion were as follows: typical WBS facies (98.2%), neuropsychomotor delay (98.2%), hypersocial behavior (94.5%), hyperacusis (94.5%), and congenital heart disease (81.8%). Conclusions. MLPA was effective in detecting the microdeletion in the 7q11.23 region to confirm the diagnosis of WBS. MLPA was also able to confirm the diagnosis of WBS in two patients with typical clinical characteristics but negative FISH results. Thus, MLPA is a promising method in the diagnostic investigation of WBS. WBS is a multisystemic disorder and therefore requires multidisciplinary care and specific follow-up to prevent complications.

Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay

We describe a female patient of 1year and 5months-old, referred for genetic evaluation due to neuropsychomotor delay, hearing impairment and dysmorphic features. The patient presents a partial chromosome 21 monosomy (q11.2→q21.3) in combination with a chromosome 3p terminal monosomy (p25.3→pter) due to an unbalanced de novo translocation. The translocation was confirmed by fluorescence in situ hybridization (FISH) and the breakpoints were mapped with high resolution array. After the combined analyses with these techniques the final karyotype was defined as 45,XX,der(3)t(3;21)(p25.3;q21.3)dn,-21.ish der(3)t(3;21)(RP11-329A2-,RP11-439F4-,RP11-95E11-,CTB-63H24+).arr 3p26.3p25.3(35,333-10,888,738))×1,21q11.2q21.3(13,354,643-27,357,765)×1. Analysis of microsatellite DNA markers pointed to a paternal origin for the chromosome rearrangement. This is the first case described with a partial proximal monosomy 21 combined with a 3p terminal monosomy due to a de novo unbalanced translocation.

Hematological abnormalities and 22q11.2 deletion syndrome

The 22q11.2 deletion syndrome (22q11DS) is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities are more frequent than previously imagined. Thus, the objective of our study was to report on a patient with 22q11DS presenting thrombocytopenia and large platelets and to review the literature. The patient, a 13-year-old boy, was originally evaluated due to craniofacial dysmorphia and speech delay. He also had a history of behavioral changes, neuropsychomotor delay and recurrent otitis/sinusitis. The identification of a 22q11.2 microdeletion by fluorescent in situ hybridization diagnosed the syndrome. Despite his hematological alterations, he only had a history of epistaxis and bruising of the upper and lower limbs. Assessments of the prothrombin time, thrombin time, partial thromboplastin time, bleeding time, fibrinogen levels and platelet aggregation (including the ristocetin induced platelet aggregation test) were all normal. Hematological alterations observed in 22q11DS are directly related to the genetic disorder itself (especially in respect to deletion of the GPIb gene) and secondary to some clinical findings, such as immunodeficiency. Macrothrombocytopenia is increasingly being considered a feature of the broad spectrum of 22q11DS and may potentially be a clinical marker for the syndrome.

O Narrar na Escola Inclusiva: Interação e Modos de Significação

This study was based on the historical-cultural theory of human development and on the declarative-discursive perspective of language. The aim was to understand the possibilities of development of a narrative language in a child with special educational needs in a school environment. The research was carried out at a local elementary school and focused on a five-year old student with neuropsychomotor delay. The classroom activities were filmed weekly during the first semester of 2008. The data collected for analysis privileged the student’s interactions with the teacher or monitor during storytelling activities. Results show that the teacher reads to the students but there is no story retelling activity with the aim of developing narration. The student uses gestures and vocal sounds to communicate. However, a discursive intent is occasionally attributed to these language modes and the child’s language possibilities are not given meaning in the school. Educators should, therefore, give new significance to the child’s modes of language and the school should offer meaningful interactive situations in order to develop the narrative language.

Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22)t(11;22) (síndrome de Emanuel)

OBJETIVO: Relatar dois pacientes com a síndrome de Emanuel (SE) ou cromossomo supernumerário der(22)t(11;22), secundária a translocações balanceadas familiares, apresentando fenótipos distintos. DESCRIÇÃO DE CASO: O primeiro paciente é uma menina branca de cinco anos de idade, apresentando hipotonia, atraso no desenvolvimento neuropsicomotor, movimentos estereotipados, microcefalia, ptose palpebral, orelhas proeminentes, fossetas e apêndices pré-auriculares, e imperfuração anal. As avaliações adicionais identificaram hipoplasia cerebral e estenose da válvula pulmonar. Possuía história também de laringotraqueomalácia e fenda palatina. O segundo paciente é um menino branco de seis meses de idade com hipotonia, movimentos coreoatetóticos, déficit de crescimento, microcefalia, microssomia hemifacial, fenda palatina, microtia, apêndices pré-auriculares e polegares proximalmente implantados. A ecocardiografia demonstrou estenose da válvula pulmonar, comunicação interatrial e interventricular, persistência do canal arterial e da veia cava superior esquerda. A radiografia de tórax identificou uma costela cervical. O cariótipo por bandas GTG mostrou a presença, em ambos os pacientes, de um cromossomo adicional der(22)t(11;22), secundário a uma translocação balanceada materna no primeiro caso e paterna no segundo caso. COMENTÁRIOS: Apesar de a primeira paciente apresentar achados frequentes da SE, o caso adicional representa a segunda descrição da literatura com um fenótipo de espectro óculo-aurículo-vertebral (EOAV). Assim, ambos salientam a variabilidade clínica observada na SE e a importância da avaliação cariotípica em indivíduos com fenótipo de EOAV.

Esophageal stenosis in a child presenting a de novo 7q terminal deletion

We report on the first case of a child with a de novo 7q terminal deletion [46,XX,del(7)(q35 → qter)] presenting esophageal stenosis. This cytogenetic abnormality was confirmed by FISH, using subtelomeric probes, and by a whole-genome array-CGH assay. The child also had phenotypic features previously described in patients with a similar deletion, as growth retardation, microcephaly, coloboma of papilla, ptosis, hearing loss, urinary tract anomalies, partial agenesis of sacrum, hypotonia and neuropsychomotor delay. The odontoid hypoplasia identified, in similarity with the esophageal stenosis, represents an uncommon finding. This report is also the first clinical description of a patient with an abnormality involving the sonic hedgehog gene and an esophageal alteration. It is discussed the possibility of a specific association between them, according to some results observed in studies with animal models.

Cardiopatias congênitas em um serviço de referência: evolução clínica e doenças associadas

Several factors, which include prenatal diagnosis and availability of new therapeutic procedures, have contributed to change the profile of patients with congenital heart disease (CHD). Knowing these changes is important to a better health care. Description of profile of patients with CHD in a reference service in the State of Rio Grande do Sul, Brazil. It is a cross-sectional study including 684 patients with CHD in a service of pediatric cardiology from January 2007 to May 2008. We interviewed the patients (and/or their parents) and examined these patients (congenital malformations, anthropometric measures). Moreover, their charts were reviewed in order to detail heart diseases, procedures and echocardiography. Patients were from 16 days to 66 years old, 51.8% were female, and 93.7% were Caucasian. The mean age at diagnosis was 15.8 +/- 46.8 months. Ventricular septal defect, patent ductus arteriosus and Tetralogy of Fallot were the most prevalent CHD. 59.1% of examined patients, whose average age was 44.3 +/- 71.2 months, have been undergoing therapeutic procedures; 30.4% had congenital extracardiac malformations; and 12 patients had genetic syndrome. Regarding development, 46.6% had low weight and height gain, and 13.7% had neuropsychomotor delay. Furthermore, 18.4% had family history of congenital heart disease. Neuropsychomotor delay and low weight and height gain may be related to CHD. Establishing a profile of patients with CHD, who were treated at an institution of reference, may function as a basis in which health care of this population can be planed appropriately.

Oral findings and dental treatment in a child with West syndrome

West syndrome (WS) is a rare, severe form of epilepsy that typically manifests early in infancy. It is considered a malignant condition that combines episodes of spasms that occur in clusters (infantile spasm), hypsarrhythmia on the electroencephalogram, and neuropsychomotor delay. Although WS has been widely investigated from a medical standpoint, few reports have focused on the oral findings in patients with this syndrome. This article reports the case history of a 7-year-old child diagnosed with WS. The major clinical features were generalized tooth wear and gingival enlargement, altered chronology and sequence of dental eruption, primary canine cusp-to-cusp relationship, ectopic dental eruption, and mildly arched palate. Multiple white spot lesions were also observed, possibly associated with poor oral hygiene, due to a fermentable carbohydrate-rich diet, and continuous use of sugar-containing medications. Dental care management of patients with special needs is discussed and the dental treatment for this child with WS is described.

Disostose espôndilo-costal associada a defeitos de fechamento do tubo neural

OBJETIVO: Salientar a relação dos defeitos de fechamento do tubo neural com a disostose espôndilo-costal (DEC) por meio da descrição de três pacientes. DESCRIÇÃO DOS CASOS: Paciente 1: menina branca, 22 meses, nascida com mielomeningocele lombar. Na avaliação, apresentava hipotonia, baixa estatura, dolicocefalia, fendas palpebrais oblíquas para cima, pregas epicânticas e tronco curto com tórax assimétrico. A avaliação radiográfica revelou hemivértebras múltiplas, vértebras em borboleta e fusão e ausência de algumas costelas. Paciente 2: menina branca, 22 meses, com moderado atraso do desenvolvimento neuropsicomotor, baixa estatura, olhos profundos, pregas epicânticas, pescoço e tronco curtos com assimetria do tórax, abdome protruso, hemangioma plano na altura da transição lombossacra e fosseta sacral profunda no dorso. A avaliação radiográfica identificou hemivértebras, fusão incompleta de vértebras e vértebras em borboleta, malformações de costelas e espinha bífida oculta em L5/S1. Paciente 3: menina branca, 9 dias de vida, com fendas palpebrais oblíquas para cima, ponte nasal alargada, orelhas baixo implantadas e rotadas posteriormente, tronco curto, tórax assimétrico e meningocele tóraco-lombar. A avaliação radiográfica evidenciou hemivértebras, malformação e ausência de algumas costelas e agenesia diafragmática à esquerda. A tomografia computadorizada de encéfalo mostrou estenose de aqueduto. COMENTÁRIOS: Vários defeitos de fechamento do tubo neural, de espinha bífida oculta a grandes mielomeningoceles, são observados em pacientes com DEC, indicando que tais pacientes devem ser cuidadosamente avaliados quanto à possível presença desses defeitos.

Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf–Hirschhorn syndrome

We report on a 4-year-old girl who presented with microcephaly, multiple minor anomalies of face and limbs, congenital heart defect, hypotonia, neuropsychomotor delay, deafness and seizures. A GTG-banded karyotype identified an additional fragment of unknown origin on the terminal region of 4p. Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole-genome array comparative genomic hybridization (array-CGH) identified a duplication of the region 4p13 --> 4p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13 --> p16.3::p16.3 --> qter). The clinical features of our patient differed from those typically observed in Wolf-Hirschhorn syndrome and were more compatible with duplication 4(p14 --> p16.3), with preservation of the WHS critical region.

Avaliação das habilidades cognitivas, da comunicação e neuromotoras de crianças com risco de alterações do desenvolvimento

O objetivo deste estudo foi avaliar habilidades neuropsicomotoras e funcionais de crianças que apresentaram, no primeiro ano de vida, história clínica de risco para alterações do desenvolvimento, quanto às áreas motora, cognitiva, lingüística e psicossocial. Foram avaliadas 60 crianças, classificadas em dois grupos: o Grupo Experimental (GI), composto por 30 crianças com idade cronológica variando de zero a dois anos e onze meses, ambos os sexos, tendo história de intercorrências peri, pré e pós-natal e/ou atraso neuropsicomotor; o Grupo Controle (GII), formado por 30 crianças sem história de alterações do desenvolvimento, pareadas quanto ao sexo e idade. Os resultados indicaram que, na comparação entre grupos, (GI e GII), GI apresentou diferença estatisticamente significante nas áreas motora, de linguagem e cognitiva. Na análise da comparação entre áreas, as de maior prejuízo foram a da linguagem e motora, seguido da cognitiva. A área psicossocial foi a menos comprometida e na comparação entre grupos os escores não foram estatisticamente significantes. Isto demonstra a influência dos fatores de risco no processo de desenvolvimento e a importância do acompanhamento precoce às crianças que apresentam histórico de intercorrências.

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.