Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes
L I Al-Gazalia, L Sztrihaa, A Dawodua, E Varadyb, M Bakirc, A Khdirc, J Johansend
a Department
of Paediatrics, Faculty of Medicine and Health Science, UAE University,
PO Box 17666, Al Ain, UAE, b Department of Paediatrics,
Tawam Hospital, Al Ain, UAE, c Department of Paediatrics, Al Ain Hospital, Al
Ain, UAE, d Department
of Radiology, Faculty of Medicine and Health Sciences, UAE University,
Al Ain, UAE
Correspondence to: Dr Al-Gazali.
Received 23
June 1998;
Revised version accepted for publication 5
November 1998
Short rib-polydactyly syndromes (SRPS) are a heterogeneous
group of recessively inherited lethal skeletal dysplasias. Four types
have been recognised. However, overlap in the clinical and radiological
features of the four types has led to difficulties in distinguishing
between them.
The congenital infection-like syndrome is an autosomal
recessive syndrome characterised by mental retardation, microcephaly, seizures, and intracranial calcifications.
We report a complex consanguineous family of Baluchi origin
in whom short rib-polydactyly type III and congenital infection-like syndrome are segregating. Four children inherited SRPS III, one inherited congenital infection-like syndrome, and one inherited both.
Although the radiological features in all the children with SRPS in
this report were typical of type III, there was overlap in the clinical
features with the other types of SRP syndromes. Furthermore, the child
who inherited both SRPS III and congenital infection-like syndrome had
CNS malformations in addition to periventricular calcification. CNS
malformations have been described in SRPS types II and IV but not type III.
This report further highlights the overlap between the
different types of SRP syndrome. Moreover, it draws attention to the importance of considering the possibility of two recessive syndromes in
the same child in complex consanguineous families when features overlap
two syndromes.
Keywords: complex consanguinity; short rib-polydactyly syndrome III; congenital infection-like syndrome
© 1999 by J Med Genet
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