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http://www.ukr-cac.org/temoinage/witness.htm
Diagnosis
Focal dermal hypoplasia (Goltz syndrome).
Multiple defects of extremities.
Left leg: the rudiment of the foot is attached to fibula ( to the minor shin bone).The big toe grows separately and is attached to the side of tibiax (to the major shin bone).[The girl actually steps on the end of the major shin bone covered with tissues and skin, while the foot is only used for additional balance.] Right leg: hip and shin are shorter than on the other leg, syndactyly of toes.
Left arm: 1 cm longer than the other one, olygodactyly, split hand(4 fingers, so-called lobster claw hand); Right arm: syndactyly of second and third fingers, ankylosis of 5th finger, contracture of 3rd and 4th fingers.
Spine normal.
Microcephalia
Multiple vessel net over the body.
Eyes: 10% of normal sight. Coloboma horioidea, coloboma of disk of visual nerve, coloboma of iris at 6 o'clock, microophthalmia. The right eye is slightly bigger.
Permanent conjunctivitis.
Internal organs: double size left kidney, cyst in the area of coccyx.
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http://adc.bmj.com/cgi/content/full/90/7/711
Infantile cortical hyperostosis
D Suri, D Dayal and M Singh
Advanced Pediatrics Center, -160012, India;
Keywords: Caffeys disease
A 14 week old male infant presented with multiple tender bony swellings involving the legs, forearm, and lower jaw since 1 month of age (fig 1). No history of fever, trauma, or child abuse was forthcoming. He was irritable and had difficulty in feeding since the appearance of the jaw swelling. Bowing of the lower limbs with pseudoparalysis was observed. There was no response to adequate vitamin C supplements received prior to hospitalisation. Investigations showed mild increase of ESR, normal blood biochemistry, sterile cultures, and negative parental serology for syphilis. Bone radiographs revealed periosteal elevation, new bone formation, and cortical thickening involving the diaphyses of bilateral tibia, ulna, and femur (fig 2). The characteristic triad of irritability, swelling, and bone lesions, age at presentation, and mandibular involvement clinched the diagnosis.
Archives of Disease in Childhood 2005;90:711
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http://www.indianpediatrics.net/jan2005/jan-64-66.htm
Indian Pediatrics 2005; 42:64-66
Abstract:
Infantile cortical hyperostosis (Caffey disease) is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and irritability. We report a case of Caffey disease highlighting its presentation as pyrexia of unknown origin, appearance on radionuclide bone scintigraphy and our unsatisfactory experience of treating it with Ibuprofen, a prostaglandin inhibitor.
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