A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate
Pelin Özlem Şimşek‐KiperCan KoşukçuÖzlem Akgün DoğanRahşan GöçmenGülen Eda ÜtineTutku SoyerAyşe KorkmazGen NishimuraMehmet AlikaşifoğluKoray Boduroğlu
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Microcephaly
Osteochondrodysplasia
We reevaluated a unique family with two sibs who had a presumed autosomal recessively inherited syndrome characterized by mental retardation, microcephaly, short stature and absent phalanges. This family was originally described by Drayer et al. in 1977. Using modern molecular techniques, we demonstrated that the syndrome is caused by the recurrence of an apparently de novo 15qter deletion of 5.8 Mb. Analysis of polymorphic markers revealed that the deletion was of maternal origin in both cases, indicating germline mosaicism in the clinically unaffected mother. This study demonstrates the possibility of parental mosaicism and the risk of recurrence in sibs for terminal subtelomeric deletions.
Microcephaly
Subtelomere
Germline mosaicism
Brachydactyly
Phalanx
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Abstract We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X‐linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn‐Romano syndrome, Rieger syndrome, and other disorders are discussed in relationship to this entity.
Microcephaly
Blepharophimosis
Mental deficiency
Autosomal recessive trait
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Microcephaly
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We report on a female patient who had acquired total alopecia, short stature, microcephaly, optic atrophy, severe myopia, and mental retardation. A survey of published reports failed to show an identical patient, despite various similar cases.
Microcephaly
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Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. © 2015 Wiley Periodicals, Inc.
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Microcephaly
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Abstract We report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.
Microcephaly
Growth retardation
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Microcephaly
Growth retardation
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Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly under diagnosed. We could find less than 25 cases reported in the literature. Patients were initially categorized as having either microcephaly and lymphedema or microcephaly and chorioretinal dysplasia. The existence of the 3 criteria in the same patients is reported. Other features such as mental retardation and short stature were noticed in other patients. In the Pediatric Department of the Armed Forces Hospital Southern Region, Kingdom of Saudi Arabia, we report a case with all clinical manifestations described in the above-related syndromes. The girl has microcephaly, retinal dysplasia, pedal edema, short stature, mental retardation, and some other dysmorphic features. The parents are not relatives, but both have retinal dysplastic changes. This report documents the existence of all different features reported in the literature in one patient, suggesting that different clinical features of reported patients are possibly the variable expression of the same syndrome.
Microcephaly
Variable Expression
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Background: Recently the genotype/phenotype map of Wolf-Hirschhorn syndrome (WHS) has been refined, using small 4p deletions covering or flanking the critical region in patients showing only some of the WHS malformations. Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas microcephaly results from haploinsufficiency of at least two different 4p regions, one of 2.2–2.38 Mb and a second one of 1.9–1.28 Mb. Methods and Results: We defined the deletion size of a ring chromosome (r(4)) in a girl with prenatal onset growth retardation, severe failure to thrive and true microcephaly but without the WHS facial gestalt and mental retardation. A high-resolution comparative genome hybridisation array revealed a 760 kb 4p terminal deletion. Conclusions: This case, together with a familial 4p deletion involving the distal 400 kb reported in normal women, may narrow the critical region for short stature on 4p to 360–760 kb. This region is also likely to contain a gene for microcephaly. "In silico" analysis of all genes within the critical region failed to reveal any strikingly suggestive expression pattern; all genes remain candidates for short stature and microcephaly.
Haploinsufficiency
Microcephaly
Failure to Thrive
Chromosomal region
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Two brothers, products of a consanguineous union, had microcephaly, mild mental retardation, short stature, cervical spine fusion anomalies, and abnormal shape of the thorax. There was association of skeletal anomalies and genetic microcephaly.
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