Lindeman-Kusse M C, Van Haeringen A, Hoorweg-Nijman J J, Brunner H G
Institutions for the Mentally Disabled, Heemstede, The Netherlands.
Am J Med Genet. 1996 Dec 2;66(1):104-12. doi: 10.1002/(SICI)1096-8628(19961202)66:1<104::AID-AJMG28>3.0.CO;2-V.
We describe 2 patients with a combination of findings strikingly similar to those described by Pitt et al. [1984], consisting of severe mental retardation, pre- and postnatal growth retardation, history of seizures, microcephaly, ocular proptosis, mid-face hypoplasia, short and flat philtrum, and wide mouth. Our cases included, a total of only 9 patients has been described. One of our patients was treated with growth hormone and responded with a marked increase in growth velocity and skeletal maturation. Chromosome analysis was performed; both patients have a deletion of 4p as is found in Wolf-Hirschhorn syndrome. A comparison is made between our patients and patients with the Wolf-Hirschhorn syndrome (4p-). We conclude that the Pitt-Rogers-Danks phenotype is associated with 4p- in our two patients and that the syndromic status of the Pitt-Rogers-Danks status should be reassessed.
我们描述了2例患者，其综合表现与Pitt等人[1984年]所描述的惊人相似，包括严重智力发育迟缓、产前和产后生长发育迟缓、癫痫病史、小头畸形、眼球突出、面中部发育不全、人中短而扁平以及嘴巴宽大。我们的病例中，总共仅描述了9例患者。我们的1例患者接受了生长激素治疗，生长速度和骨骼成熟度显著增加。进行了染色体分析；两名患者均有4号染色体短臂缺失，这在沃尔夫-赫希霍恩综合征中可见。我们将我们的患者与沃尔夫-赫希霍恩综合征（4p-）患者进行了比较。我们得出结论，在我们的两名患者中，皮特-罗杰斯-丹克斯表型与4p-相关，并且皮特-罗杰斯-丹克斯综合征的综合征状态应重新评估。
