Perinatallethal Osteogenesis Imperfecta Type II A with white sclerae:A Case Report
Abstract
Osteogenesis Imperfecta is a genetic connective tissue disorder. It has clinically heterogeneous four types. Type 2 is the most severe and perinatally lethal form having small thorax, curved limbs and blue/gray sclerae. It is further subclassified into 3 types. A baby with sign and symptoms with macrocephaly, retrognathia, low set ears, widely placed eyes with white sclerae, complete cleft palate, narrow chest, curved and shortened limbs, B/L CTEV, left undescended testis with hypospadiasis was reported. This rare case was thoroghly examined and investigated which came out to a case of 'Osteogenesis Imperfecta type 2 A' having white sclerae. So case having such symptoms were should be investigated for Osteogenesis Imperfecta.
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Introduction
Osteogenesis Imperfecta (OI), is a rare inherited bone disease. It is the most common genetic cause of osteoporosis, a generalized disorder of connective tissue. 1
It can be identified in perinatal period. Its spectrum is extremely broad varying from mild to lethal forms. In the perinatal period. It's cause being structural or quantitative defect in type I collagen. 2
It is classified mainly into 4 types i.e. Type I –Type IV according to Silence classification based on the varying phenotypic features. 3 Type I is the common mild form, type II is the perinatal lethal form, type III is a severe form and type IV is a moderately severe form. 4,5
Osteogenesisimperfecta type II is the most severe form leading to inutero or perinatal death and has been subclassified into groups i.e. group A, B and C on the basis of radiological features. 6 Cases of perinatally lethal forms of OI have already been reported in the past. 7,8,9
At birth, infants with OI type II A have very short and curved limbs, long bone fractures, small chest and soft skull, sclerae are usually blue or gray. 4,5,6,7,8
This rare case of OI type II A who was having all the characteristic features for its type4,5 but differed in having white sclerae was reported.
Conclusion
A baby with sign and symptoms with macrocephaly, retrognathia, low set ears, widely placed eyes with white sclerae, complete cleft palate, narrow chest, curved and shortened limbs, B/L CTEV, left undescended testis with hypospadiasis should be investigated for Osteogenesis Imperfecta.