Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.
نویسندگان
چکیده
We report prenatal and neonatal neuroimaging findings in a case of oral-facial-digital syndrome type VI (OFDS VI). Prenatal MR imaging at 29 weeks' gestation showed hypoplastic cerebellar vermis and hemispheres, the molar tooth sign, and a hypothalamic hamartoma. Neonatal MR imaging confirmed these findings. The neonate developed breathing abnormalities and exhibited frontal bossing, multiple bucco-alveolar frenula, and postaxial hexadactyly of both hands. If the molar tooth sign and a hypothalamic hamartoma are present, prenatal diagnosis of OFDS VI is possible.
منابع مشابه
Malformations of cerebral cortical development in oral-facial-digital syndrome type VI.
Facial-Digital Syndrome Type VI Oral-facial-digital syndrome type VI (OFDS VI) or Váradi-Papp syndrome is a rare autosomal recessive disorder, distinguished from other type of OFDS by metacarpal abnormalities with central polydactyly; cerebellar abnormalities; and, sometimes, hypothalamic hamartomas. Affected patients present with hypotonia, cognitive impairment, irregular breathing, and oculom...
متن کاملفلج مادرزادی عصب صورتی: گزارش دو مورد در یک خانواده
Mc Hugh has reported that incidence of neonatal facial nerve Paralysis in 1969, has been 0.23%. Infantile facial nerve paralysis has been categorized to three groups: 1- Congenital (Developemental) facial nerve paralysis 2- Prenatal acquired facial nerve paralysis. 3- Postnatal acquired facial nerve paralysis The Mobius syndrome may be the most famous among the causes of congenital facial nerve...
متن کاملOtolaryngologic aspects of oral-facial-digital syndrome.
The oral-facial-digital (OFD) syndromes are a heterogeneous group of hereditary disorders which have in common the findings of oral abnormalities, facial dysmorphism, and hand/feet malformations. We report the case history of an 18-month-old male with cerebellar cysts, hydrocephalus, tongue hamartomas, and polydactyly. These findings are most consistent with OFD VI. The clinical features of eig...
متن کاملDelineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of ...
متن کاملPrenatal ultrasound and magnetic resonance imaging in fetal varicella syndrome: correlation with pathology findings.
OBJECTIVES To assess the diagnostic value of prenatal magnetic resonance imaging (MRI) in addition to prenatal ultrasound in a case of fetal varicella syndrome. METHODS Comparison of prenatal ultrasound and MRI features obtained at 26 and 32 weeks, respectively, with neonatal imaging (ultrasound, MRI and CT) and macroscopic and microscopic pathology findings in a fatal case of varicella embry...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- AJNR. American journal of neuroradiology
دوره 29 6 شماره
صفحات -
تاریخ انتشار 2008