What is your provisional diagnosis for this patient ? Many answers can be accepted in most of the cases uploaded in Spot Diagnosis section , I add the right answer according to original story of the photo.
Cloverleaf skull is a rare malformation syndrome in which the head has a cloverleaf aspect. It is caused by the premature closure of several sutures and is apparent from birth. Only 120 cases only have been reported so far, with more cases reported in girls than in boys. In severe forms, bilateral bulging of the skull in temporal regions and on the top induce a downward displacement of the ears, which face the shoulders. Exophthalmos is linked to shallowness of the orbits and the eyelids may fail to close, leading to corneal ulceration. Several other dysmorphic signs have been described: hypertelorism, flattened nose root and mid-face hypoplasia. Venous distension of the scleras and scalp has been noted. Hydrocephalus is often associated, sometimes because of obstruction of the cerebral aqueduct. Malformations of the brain and cerebellum have also often been described. Cloverleaf skull may be observed as an isolated condition or together with other anomalies making up various syndromes known to have different causes: Crouzon disease, Pfeiffer syndrome, Carpenter syndrome, campomelic dwarfism, type II thanatophoric dwarfism, Jeune asphyxiating thoracic dystrophy and amniotic rupture sequence. Early death has been noted in most cases. In exceptional cases of survival, motor retardation is associated with increased intra- cranial pressure that necessitates a ventriculo-peritoneal shunt.
Treacher-Collins syndrome is a condition that is passed down through families (hereditary) that leads to problems with the structure of the face. Causes Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited). This condition may vary in severity from generation to generation and from person to person. Symptoms Outer part of the ears are abnormal or almost completely missing Hearing loss Very small jaw (micrognathia) Very large mouth Defect in the lower eyelid (coloboma) Scalp hair that reaches to the cheeks Cleft palate Exams and Tests The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Clefts in the face Small jaw Low-set ears Abnormally formed ears Abnormal ear canal Hearing loss Defects in the eye (coloboma that extends into the lower lid) Decreased eyelashes on the lower eyelid Genetic tests can help identify gene changes linked to this condition. Treatment Hearing loss is treated to ensure better performance in school. A good plastic surgeon is very important, because children with this condition sometimes need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure. Support Groups Treacher Collins Foundation -- www.treachercollinsfnd.org Outlook (Prognosis) Children with this syndrome typically grow to become normally functioning adults of normal intelligence. Possible Complications Feeding difficulty Speaking difficulty Communication problems Vision problems When to Contact a Medical Professional This condition is usually seen at birth. Genetic counseling can help families understand the condition and how to care for the patient. Prevention Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant. Alternative Names Mandibulofacial dysostosis
