Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.

INTRODUÇÃO: As fendas orofaciais estão entre os mais prevalentes defeitos congênitos em todo o mundo. Atenção especializada e vigilância de necessidades básicas de saúde são críticas no cuidado aos indivíduos. OBJETIVO: Foi descrever a experiência e o interesse de profissionais da Estratégia Saúde da Família no acompanhamento de indivíduos com fendas orofaciais. MÉTODOS: Coorte observacional com 104 profissionais de Maceió (AL) e Campinas (SP). Características demográficas, acadêmicas e profissionais, bem como a experiência didática e o desejo por educação continuada, foram colhidas por meio de questionário. RESULTADOS: Setenta e quatro profissionais atuavam em Maceió e 30 em Campinas. O gênero feminino e a baixa qualificação acadêmica foram predominantes. Médicos e enfermeiros prevaleceram sobre dentistas, e 78 (75%) participantes tinham experiência clínica com fendas. O uso de protocolos foi mencionado por 3/104 (2,9%), a oferta de informações sobre fendas por 58/104 (56%) e o encaminhamento para unidades especializadas da Rede de Referência por 7/104 (6,7%). Cerca de 50% dos participantes referiram experiência didática e 94%, desejo por educação continuada CONCLUSÃO: Os resultados corroboram a literatura e reforçam a necessidade de melhorar a capacitação de profissionais nesta área. Para tanto, são apresentadas estratégias para promover educação e reforçar laços entre a atenção básica e equipes especializadas.

INTRODUCTION: Orofacial clefts are among the most prevalent birth defects worldwide. Specialized treatment and surveillance of basic health needs are critical. Few studies have investigated primary care practitioners' experience in caring for individuals with clefts. OBJECTIVE: It was to describe experience and current interest of family care practitioners on the management of individuals with clefts. METHODS: Observational cohort of 104 practitioners from Maceió (AL) e Campinas (SP). Demographic, academic and professional characteristics, didactic experience and desire in continuing education on clefts were assessed using a questionnaire RESULTS:Seventy-four practitioners were located in Maceió and 30 in Campinas. Female gender and low academic qualification were predominant. Physicians and nurses prevailed over dentists, 78 (75%) participants had clinical experience with clefts. Use of protocols was mentioned by 3/104 (2.9%), provision of information on clefts by 58/104 (56%) and referrals to the Brazilian Reference Network by 7/104 (6.7%). Almost 50% reported didactic experience and 94%, desire on continuing education in this field CONCLUSION: Results corroborate the literature and reinforce the need of improving family care practitioners' skills to manage individuals with clefts. Education and strengthen ties between primary level of the health system and specialized teams must be focused. Some strategies are presented in this regard.

Mutations in the KAL-1 gene localized at Xp22.3 have been shown to be responsible for the X-linked Kallmann syndrome (KS), a disorder characterized by the association of hypogonadotropic hypogonadism and anosmia. In this paper, we describe the investigation of two families with X-linked KS, in which similar interstitial deletions ning exons 5 to 10 of the KAL-1 gene were identified. The presence of interspersed repetitive DNA sequences within the KAL-1 gene might have predisposed to this type of mutation.