Langer Saldino syndrome
Majority of cases are sporadic. Autosomal dominant inheritance is also another mode. There is mutation in the collagen type II gene (COL2A1) on chromosome 12q which is responsible for type II collagen encoding.
Majority of cases are stillborn or die within few hours after birth. The neonate is extremely short stature and present with large calvarium, large fontanels, hypertelorism, depressed nasal bridge, anteverted nostrils, hypertrophied tongue and micrognathia.
Other abnormalities include a short neck, short limbs (rhizomelic), narrow thorax and distended abdomen.
Radiographic features include
- normal cranial ossification
- short ribs without fracture
- short and broad tubular bones with metaphyseal widening and spurs
- disproportionately long fibula
- squaring of iliac wings with a horizontal acetabular angle.
- insufficiently ossified vertebrae, ishium, pubic bone, calcaneum and talus.
Prenatal USG made it possible for earl detection of various skeletal dsplasias as early as 15 to 19 weeks of gestation. Findings may include
- 1. Jones KL, Jones MC, del Campo M. Smith's Recognizable Patterns of Human Malformation. Elsevier Health Sciences. (2013) ISBN:0323186688. Read it at Google Books - Find it at Amazon
- 2. Lee HS, Doh JW, Kim CJ et-al. Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. J. Korean Med. Sci. 2001;15 (5): 604-8. Free text at pubmed - Pubmed citation