A two-day-old male child,born of consanbuineous parentage presented with the complaint of
stridor since birth.On examination ,the child had three nostrils (Fig.) Each nostril was
seperated by a wall.The hard palate was thick and had no cleft.The soft palate and uvula
were normal.There was stenosis of posterior choana.There were no other anomalies.The
child's cry and sucking were normal and vigorous.Hearing appeared to be normal
clinically.The chest X-ray and abdominal sonogram were normal.
Two earlier sibling too had anomalies.Both were born with bilateral
absence of external ears.
Fig. 1. Blisters and raw ulcerative lesions all over the body and
crusts around her nostrils and oral cavity.
Child Care Center,
Indian Pediatrics 1999;36: 1173-1174
A 15 year old boy was admitted with history of
cough & breathlessness off and on.The patient was a product of consanguineous
marriage.The mother had 4 still births and this was the only living child.The child
had repeated fractures till age of 2 to 3 years.
Physical examination revealed a boy with hort stature (length of 111 cm against an
expected 60 cm),large head,blue sclera,kyphoscoliosis,high arched palate,pectus carinatum
and multiple bony deformities (Fig. 1)The boy was mentally normal and had passed 10th
class examination.X-ry of the right leg reveled bony deformity involving both tibia and
fibula (Fig 2) and chest X-ray showed kyphoscoliosis.
|Fig. 1. Clinical photograph showing blue sclera,kyphoscoliosis, pectus
carinatum and having deformity of right leg.
||Fig.2. X-ray of right leg showing bowing deformity of tibia and fibula.
Osteogenesis imperfecta type IV is autosomal dominant and
les lethal unlike types I , II ,III which are autosomal recesive and more lethal.Those
with type I and type IV osteogenesis imperfecta show spontaneous improvement at
puberty and may hve few fractures in adolesence and adulthood.
Vakil Chawl,Gadag 582101,