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Tetraamelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetraamelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal 46,XX and premature centromere separation was excluded. No mutation was identified upon molecular analysis of WNT3, HS6ST1, and HS6ST3. We reviewed the literature and the differential diagnosis to clarify the clinical delineation of conditions associated with tetraamelia. The present report describes the sixth family with this pattern of malformations and reinforces the evidence that the “tetraamelia and lung hypoaplasia syndrome” is a distinct autosomal recessive condition, with no identified gene thus far. © 2008 WileyLiss, Inc.

Schimke immuno‐osseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia, nephropathy, and T‐cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1. We report an 8‐year‐old boy with SIOD and recurrent, severe, refractory migraine‐like headaches. Through a retrospective questionnaire‐based study, we found that refractory and severely disabling migraine‐like headaches occur in nearly half of SIOD patients. We have also found that the vasodilator minoxidil provided symptomatic relief for one patient. We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function. © 2005 Wiley‐Liss, Inc.

Progressive diaphyseal dysplasia was found in a 3-generation family including 18 affected individuals. We describe the clinical and radiographic manifestations in 6 of 18 patients with this autosomal-dominant bone dysplasia and the good symptomatic response to corticosteroid treatment in one of these. The variability of manifestations of the disease in this family and in others previously described seems to depend on the sex of the patient and the parental origin of the mutation. The patients with more severe symptoms are males who inherited an allele of paternal origin. We suggest that the progressive diaphyseal dysplasia gene has a function in endochondral bone formation and that its mutation is a dynamic one with repeat expansion enhanced in father-to-son transmission. Am. J. Med. Genet. 71:348–352, 1997. © 1997 Wiley-Liss, Inc.

Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome with moderate to severe mental retardation and no previously identified brain abnormalities. We describe the seventh case and note dysgenesis of the corpus callosum in this patient. Am. J. Med. Genet. 91:198–200, 2000. © 2000 Wiley-Liss, Inc.