Objectives: LEOPARD syndrome is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, ocular hypertelorism, growth retardation, and deafness. The purpose of this case series was to review the most prominent comorbidities associated with LEOPARD syndrome, and describe perioperative outcomes in a series of patients undergoing anesthesia. Design: Retrospective ca...

Loeys-Dietz syndrome is characterised by vascular aneurysms, hypertelorism, and a bifid uvula. We report on an 11-year-old boy with Loeys-Dietz syndrome who presented with bilateral radial head dislocations and severe osteopaenia with changes of avascular necrosis in both hips causing an out-toeing, wide gait. Considering the poor prognosis for elbow movement and possible radial head dysplasia,...

Freeman-Sheldon syndrome is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. FSS (FreemanSheldon Syndrome) is also known as craniocarpotarsal dysplasia (or dystrophy), distal arthrogryposis type IIA (DAIIA), whistling face syndrome, and whistling face-windmill vane hand syndrome. The syndrome ...

Campomelic syndrome is a rare autosomal recessive disease. It is characterized by short stature with angulation and bowing of the lower limbs, hypoplasia of the facial bones, and various other skeletal anomalies. The facies are unusually flat with micrognathia, frequent cleft palate, hypertelorism, and micro-ophthalmia. Most infants with this syndrome die from severe respiratory distress within...

Gorlin Goltz Syndrome, or Nevoid Basal Cell Carcinoma is an autosomal dominant genetic disease characterized especially by the manifestation of basal cell carcinomas in skin and keratocysts jaws. Additionally, patients may present with several other manifestations, such as bifid ribs, hypertelorism calcification falx cerebri. The diagnosis has physicians dentists protagonists investigation invo...

Apert syndrome is a rare which presents with craniosynostosis, severe syndactyly, and dysmorphic facial features. It mainly caused by new mutation in fibroblast growth factor receptor-2 gene. Up-regulation of this gene results bone fusion nuclear deficiency the transcription FoxO1 key pathogenesis acne. We present herein 19-year-old man nodulocystic acne associated acrocephaly, prominent forehe...

Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually mad...

49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (...

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve ...