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Verloes et al. (1990) described an Arab sibship originating from Morocco in which 4 children had a syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, unusual hooked nose, narrow mouth, retrognathia, and severe neurologic impairment. One sib was stillborn. The other 3 died in a cachectic state during their second year. One child had severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations included anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. The parents denied consanguinity, although they shared the same family name and came from the same village.
Herens et al. (1997) reported an affected daughter of the eldest unaffected sister of the Moroccan sibs with Lambotte syndrome reported by Verloes et al. (1990). The pregnancy was marked by oligohydramnios and sudden IUGR between 21 and 25 weeks of gestation. The infant showed facial anomalies including high square forehead, flat nasal bridge, hypertelorism, ocular proptosis with lagophthalmos, small and flat nose with widely depressed tip, long and deeply grooved philtrum with marked cupid bow, microstomia with downturned corners, micrognathia, low-set but normally shaped ears, and short neck. Radial aplasia with small adducted thumb was present on the right. Echocardiography showed a large atrial septal defect, and brain MRI revealed hypoplastic corpus callosum. Skeletal survey showed 11 pairs of ribs, supernumerary cervical and lumbar vertebrae, and hypoplastic/hypomineralized ischiopubic rami. On neurologic examination, the infant exhibited marked muscular hypotonia, difficulty swallowing, and poor reflexes. She experienced failure to thrive and died at home at 4 months of age. Autopsy was not performed.
In the unaffected mother of a female infant with Lambotte syndrome, from the Moroccan family originally reported by Verloes et al. (1990), Herens et al. (1997) performed FISH analysis with a chromosome painting probe and identified a subtle reciprocal and symmetric translocation, t(2;4)(q37.1;p16.2). DNA was unavailable from the affected daughter or the mother's affected sibs. Herens et al. (1997) suggested that all affected children in the family carried a combination of 2q/4p trisomy/monosomy, and noted that many private sporadic or recurrent multiple congenital anomalies/mental retardation syndromes may be due to similar symmetric translocations that are undetectable by conventional banding techniques.
Herens, C., Jamar, M., Alvarez-Gonzalez, M.-L., Lesenfants, S., Lombet, J., Bonnivert, J., Koulischer L., Verloes, A. Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome. Am. J. Med. Genet. 73: 127-131, 1997. [PubMed: 9409861] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19971212)73:2<127::aid-ajmg5>3.0.co;2-r]
Verloes, A., Dodinval, P., Beco, L., Bonnivert, J., Lambotte, C. Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. Am. J. Med. Genet. 37: 119-123, 1990. [PubMed: 2240028] [Full Text: https://doi.org/10.1002/ajmg.1320370128]