Initial ultrasound of a fetus in the third trimester demonstrated shortened and bent fetal extremities with a narrow and misshapen thorax. These findings were suggestive of a fetus affected with a possible lethal skeletal dysplasia. Decisions regarding antepartum, intrapartum and neonatal care were made in this context. A newborn with campomelic dysplasia was delivered and suffered a rapid downhill course.

Kenny-Caffey syndrome (KCS) is a rare genetic condition characterized by growth retardation, bone abnormalities, and hypoparathyroidism. Herein, we report an unusual case of a 10-year-old girl with Kenny-Caffey syndrome type 2 (KCS2) presenting with vision impairment-suspected maculopathy and intellectual disability. Endocrine evaluation showed low calcium and high phosphorus plasma levels. Radiographic evaluation revealed short metacarpal bones and delayed bone age. Sequencing analysis showed a missense variant in FAM111A (R569H), unidentified in her parents. Better understanding of potential neurological and ophthalmological findings in KCS2 patients is important to improve quality of life of these patients as usually they exhibit long survival.

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To our knowledge, there is only one case reported in the literature showing the same association between a nasoethmoidal meningocele and CCAM. Thus, the malformations observed in our patient may be related to the gestational exposures. Also, we cannot rule out that the patient may present the same condition characterized by a cephalocele and CCAM described by some authors, or even an undescribed entity, because some hallmark features, such as laryngeal atresia and limb defects, were not observed in our case. Further reports will be very important to better understand the associations described in our study.

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Several countries, as Brazil, have public policies for periconceptional folic acid supplementation (FAS) in order to prevent unfavorable outcomes. Our aim was to evaluate the FAS situation in a public reference hospital from Southern Brazil. This study included all mothers who had children born at the Hospital Materno Infantil Presidente Vargas, RS, Brazil, in a 1-year period. Data collection was conducted through interviews with application of a clinical protocol and analysis of the patients' records. FAS was defined as the use of folic acid in any period of the periconceptional period, irrespective of the duration and amount. We also classified those mothers who correctly followed the national recommendation proposed by the Health Ministry of Brazil. The sample consisted of 765 mothers evaluated soon after childbirth. Their ages ranged from 12 to 45 years (mean 25.2 years). The overall level of FAS was 51.5%, and the use according to the national recommendation occurred in only 1.6%. Factors associated with non-FAS consisted of lower maternal age (p = .009) and maternal schooling (p = .023), higher number of pregnancies (p = .003), fewer prenatal visits (p = .050) and later prenatal care onset (p = .037). Periconceptional FAS in our midst seems to be very far from the ideal goal. Susceptible groups appeared to be mothers who were younger, less educated, multiparous, and had inadequate prenatal care. We believe that efforts of education and awareness should be especially targeted for these groups. These recommendations should also be strengthened among those who prescribe the FAS. K E Y W O R D Slow maternal schooling, multiparous, Periconceptional folic acid supplementation, pregnancy, prenatal care, prevention, younger mother

Warfarin is a synthetic oral anticoagulant that crosses the placenta and can lead to a number of congenital abnormalities known as fetal warfarin syndrome. Our aim is to report on the follow-up from birth to age 8 years of a patient with fetal warfarin syndrome. He presented significant respiratory dysfunction, as well as dental and speech and language complications. The patient was the second child of a mother who took warfarin during pregnancy due to a metallic heart valve. The patient had respiratory dysfunction at birth. On physical examination, he had a hypoplastic nose, pectus excavatum, and clubbing of the fingers. Nasal fibrobronchoscopy showed upper airway obstruction due to narrowing of the nasal cavities. He underwent surgical correction with Max Pereira graft, zetaplasty, and osteotomies for the piriform aperture. At dental evaluation, he had caries and delayed eruption of the upper incisors. Speech and language assessment revealed high palate, mouth breathing, little nasal patency, and shortened upper lip. Auditory long latency and cognitive-related potential to auditory stimuli demonstrated functional changes in the cortical auditory pathways. We believe that the frequency of certain findings observed in our patient may be higher in fetal warfarin syndrome than is appreciated, since a significant number result in abortions, stillbirths, or children evaluated in the first year of life without a follow-up. Thus, a multidisciplinary approach and long-term monitoring of these patients may be necessary.

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