Luciana Paula Maximino De-Vitto

Language Skills and Neuropsychological Performance in Patients With SHH Mutations and a Holoprosencephaly-Like Phenotype

Here, we evaluate linguistic skills and neuropsychological performance in a sample of patients with SHH mutations and a holoprosencephaly (HPE)‐like phenotype, a minor form of classic HPE. Our findings suggest that patients with SHH mutations and a HPE‐like phenotype have normal cognitive ratios and significant language impairment. Imaging evaluation by magnetic resonance imaging (MRI) was normal in three patients and in one there was hypoplasia of the anterior commissure and the presence of a temporal cyst, apparently not related to the clinical findings.

Avaliação dos aspectos neuropsicolingüísticos de um caso de holoprosencefalia com mutação do gene SHH

The holoprosencephaly (HPE) is the most frequent of the craniofacial malformations described in literature. Several genes have already been identified as responsible for this kind of anomaly, among them, the Sonic Hedgehog (SHH), ZIC2, SIX3 and TGIF. The aim of this study was to evaluate the neuropsycholinguistic abilities of an individual with the HPE and mutation of the SHH gene, presenting phenotypic characteristics of the Like type. The results evidenced that, in spite of the lightness of the degree of HPE (Like phenopype), the patient showed significant loss of the linguistic abilities, although the cognitive aspects were adequate. The magnetic resonance of the encephalon revealed hypoplasia of the anterior commissure and presence of a temporal cyst on the left side, findings apparently not related to the clinic symptomatology.

A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance.

Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia

The proposita was the 4th child of a 34-year-old White woman and her unrelated 34-year-old husband (Fig. 1). Pregnancy was normal. Delivery was normal and at term. Birth weight was 4,000 g (75th centile) and seizures began during infancy. Examination at age 37 years showed a weight of 96.0 kg (>97th centile), height of 168 cm (90> 75th centile), and OFC of 60 cm (>98th centile). She had obesity, round face, macrocrania, prominent supraorbital ridges, prominentmandible, short neck, broad-based gait, poor motor coordination, hyperactivity, and mental deficiency. Psychological assessment showed severe cognitive impairment. Speech and language evaluation showed poor verbal communication and severe orofacial dyspraxia. Roentgenograms showed signs of intracranial hypertension, large frontal sinus, hyperostosis of Fig. 1. Macrocrania, prominent supraorbital ridges, and prominent mandible. Fig. 2. A–C: MRI showing a large frontal sinus and hyperostosis of the cranial vault.