Abstract
Goyal-Naqvi syndrome (GNS) is a newly documented clinical entity that comprises trisomy 10p and terminal 14q deletion, though trisomy 10p and terminal 14q deletion have been discovered as distinct conditions in 1974 and 1997, respectively. Nevertheless, to date, the total number of reported cases of each of these conditions is estimated to be in double digits. Both manifest as a constellation of features like craniofacial dysmorphism, hypotonia, intellectual impairment and global developmental delay. Characteristic facies include protruded forehead, hypertelorism, epicanthic folds, down slanting palpebral fissures, flat nasal bridge, long philtrum, thin upper lip, carp-shaped mouth, retro-micrognathia and low set ears. Besides, trisomy 10p is strikingly associated with clinodactyly and camptodactyly which aids in clinical diagnosis, apart from other musculoskeletal deformities like hip dysplasia and pes planus. Intersex conditions have been found to commonly co-exist. As other systems also display involvement frequently, trisomy 10p is a discernible multiple congenital anomalies/mental retardation (MCA/MR) syndrome. On the other hand, with terminal 14q deletion, increased risk of certain types of cancer was predicted as specific tumor suppressor genes are lost in the deletion and thus, screening was recommended. Genetic workup using techniques like fluorescence in situ hybridization (FISH), spectral karyotyping (SKY) and chromosomal microarray-based comparative genomic hybridization (CGH) was found to be helpful in diagnosis of trisomy 10p and 14q deletion. Prenatal diagnosis of these conditions has been well documented too. Intrauterine growth retardation has been observed to be related to trisomy 10p. There is a paucity of literature on the management of children diagnosed with trisomy 10p or with terminal 14q deletion. Although management of a child diagnosed with concomitant occurrence of trisomy 10p and terminal 14q deletion by a multidisciplinary approach emphasizing physiotherapeutic intervention has shown remarkable improvement in motor skills, the care of children diagnosed with these genetic aberrations needs further investigation. Documentation of more such cases will help to expand phenotypic spectrum for early identification and to delineate natural history for a life span approach. Early identification and intervention facilitate tapping of the maximum neuroplastic potential for better neurodevelopmental outcomes. We present a review of current literature on this novel syndrome to identify gaps in knowledge to build future research.
Highlights
BackgroundGoyal-Naqvi syndrome (GNS) is a recently discovered genetic disorder that is a rare combination of two specific aberrations
Simpler forms of screening tests that predict risk of a wide range of aberrations are available but still need further research to increase sensitivity and specificity so that relevant tests for diagnosis can be applied for the pregnant women who need it
Genetic disorders like GNS are expected to remain largely undiagnosed until postnatal life or infancy owing to their rare occurrence and lack of resources, especially in developing and underdeveloped nations
Summary
Goyal-Naqvi syndrome (GNS) is a recently discovered genetic disorder that is a rare combination of two specific aberrations. Even more rare is the occurrence of terminal 14q deletion, as just 20 cases had been reported in the literature since its discovery in 1997 [4], in accordance with a study published in the year 2009 [5]. Phenotypic delineation of terminal 14q deletion comprises hypotonia, global developmental delay, facial dysmorphism (frontal bossing, epicanthic folds, blepharophimosis, thin upper lip vermillion, wide philtrum, triangular/fish-shaped mouth, micrognathia) as was observed in the child with GNS too [1,41,42,43,44,45,46,47]. Clinical features of interstitial 14q deletion that resemble those of terminal deletion are craniofacial dysmorphism like microcephaly, widely spaced eyes, epicanthal folds, long-smooth philtrum and tooth agenesis, apart from neurological manifestations like hypotonia and delayed psychomotor development. Genetic counselling of the parents must be undertaken as preconception advice in the future [1]
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