Frontonasal Dysplasia with Severe Occipital Lobe Hypoplasia Sunita Vegesna & Lakshmiprasanna Gutthi & Pundarikaksha Varanasi & T. P. Gandhi
Received: 16 October 2013 / Accepted: 19 March 2014 # Dr. K C Chaudhuri Foundation 2014
A six-year-old girl was brought with complaints of facial dysmorphism, rotatory nystagmus and defective vision. She was born out of second degree consanguineous marriage. She had attained appropriate motor and mental milestones for her age. On examination, she had brachycephaly, broad forehead, widow’s peak (a hairline that extends farther than normal and comes to a point in the centre of the forehead), broad nasal root with bifid tip of nose and anteverted nares (Fig. 1). Ophthalmological evaluation showed ocular hypertelorism, blepharophimosis, epicanthal folds, rotatory nystagmas and strabismus. There was a skin covered bony defect in the posterior part of the parietal bones with absence of hair on
the skin overlying the bony defect (partial alopecia). Skull radiograph confirmed absence of posterior parietal bones (Fig. 2). CT scan of brain showed enlarged parietal foramina, severe hypoplasia of occipital lobes (Fig. 3), and partial agenesis of corpus callosum. Echocardiography, ultrasonography of the abdomen and skeletal survey were normal. Family history revealed presence of similar facial dysmorphism in elder male sibling. Both the parents were phenotypically normal. The presence of parental consanguinity and the occurrence of features suggestive of fronto nasal dysplasia (FND) in the index case and her elder male sibling are highly suggestive of autosomal recessive mode of inheritance.
Fig. 1 Photograph of the child revealing typical facial features like hypertelorism, microopthalmia, widows peak and bilateral clefting of alae nasi S. Vegesna (*) : L. Gutthi : P. Varanasi : T. P. Gandhi Department of Pediatrics, Maharajah’s Institute of Medical Sciences, Nellimarla, Vizianagaram, Andhra Pradesh 535217, India e-mail: [email protected]
anomalies and tibial hypoplasia. Diagnosis is established by the presence of typical clinical features and genetic studies. Management includes Cosmetic surgery to correct the facial defects in affected individuals. Individuals with FND can expect a normal life span in the absence of significant complications. Guarantor Dr. T. P. Gandhi will act as guarantor for this paper. Conflict of Interest None. Role of Funding Source None.
Fig. 3 CT scan brain showing severe occipital lobe hypoplasia
Fronto nasal dysplasia (FND) is a rare midline anamoly characterized by malformations of the central portion of the face, nose and philtrum. It is also called as Median cleft syndrome or Burian’s syndrome . The main clinical features of FND are true ocular hypertelorism, broadening of the nasal root, a median facial cleft with unilaleral or bilateral clefting of the alae nasi, anterior cranium bifidum occultum  and widow’s peak. Most cases of FND are sporadic but a few familial cases  consistent with either autosomal recessive [4, 5] or x-linked dominant pattern of inheritance have been reported. It is commonly associated with agenesis of corpus callosum, tetralogy of fallot , polydactyly, vertebral
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