Lata Goyal1, Jagdish Prasad Goyal2, Bhanu Kiran Bhakhri3, Ashi Chug4
ABSTRACT Filippi syndrome is an autosomal recessive condition characterized by syndactyly of fingers and toes, microcephaly, growth retardation and abnormal facies. We are describing a boy who presented with syndactyly, mental retardation, microcephaly, depressed nasal bridge and growth retardation. In addition he had some dental abnormalities like missing bilateral lateral incisors and delayed eruption of teeth. We concluded it to be Filippi syndrome by studying pathognomic clinical features and reviewed the literature. This is the second case report from India.
Case Report A four-year-old male child was brought by his parents with the chief complaint of abnormal facies, hearing and speech impairment. The child was born by vaginal delivery at term and had normal birth weight according to parents. He was started on breast feeding soon after birth. He had syndactyly of fingers for which he was operated by surgeon [Table/Fig-1]. He had developmental delay. Child presented to us at 4 years of age. His head circumference was 42 cm (
SCARF syndrome is a very rare syndrome that so far only two cases have been reported in the papers. In this article, a 3-month-old female who exhibited SCARF syndrome presented with multiple congenital abnormalities and problems at Imam Hossein hospi
Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfano
An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer
In Klippel Feil syndrome, classically there is a triad of short neck, a low posterior hairline and a limited range of neck movements especially of lateral bending. In fewer than 50% of cases have all the three elements.
The purpose of this report is to present a rare entity of Parry-Romberg syndrome. This poorly understood degenerative condition is characterised by atrophic changes affecting one side of the face. The cause of these changes remains obscure.
Prune Belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology almost exclusive to males. We report a case of term male baby born to a 39-year-old grand multipara with previous four normal vaginal births. There was no history of geneti
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