Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type Caroline Crachami

Abstract

We describe a patient with primordial microcephalic dwarfism with severe intrauterine growth retardation and severe and progressive postnatal deficit in length, weight and head circumference. The patient was extroverted and sociable but mildly mentally retarded. He had marked delay of bone maturation and an enlargement of the sella turcica. This child and two previously reported patients [Boscherini et al., Eur J Pediatr 137:237-242, 1981] have many characteristics in common with Caroline Crachami, the famous "Sicilian dwarf". We think that these patients belong to a separate category of microcephalic primordial dwarfism.

Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings

“…Disproportionate short stature, synostosis of sagittal suture, short neck, short and bowed forearms, flared distal metaphyses of the femora, hypoplastic pelvis, and delayed intellectual development distinguish that patient from the current patients. Large sella turcica found in the current patients have been seen in MOPD, type Caroline Cachami [Majewski, 1992;Boscherini et al, 1996]. This leaves the question whether the basic defect of this new syndrome involves the pituitary gland.…”

Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation

“…Other gracile bone dysplasias do not report this. Osteodysplastic slender bone dysplasia type I/II (osteodysplastic primordial dwarfism) and its variants [Majewski et al, 1982; Kozlowski et al, 1993; Boscherini et al, 1996; Sigaudy et al, 1998] can be excluded because of proportionate head, different craniofacial appearance and bone changes not those of primordial dwarfism.…”

Morphometric appraisal of the skull of Caroline Crachami, the Sicilian “dwarf” 1815?–1824: A contribution to the study of primordial microcephalic dwarfism

“…As a response to the heterogeneity of PMD, further analysis led to the description of at least three types of microcephalic osteodysplastic primordial dwarfism, types I, II, III [Majewski and Goecke, 1982, 1998; Majewski et al, 1982a, 1982b; Winter et al, 1985; Meinecke and Passarge, 1991; Meinecke et al, 1991; Majewski, 1992; Buebel et al, 1996; Corsello et al, 1996; Sigaudy et al, 1998]. Boscherini et al [1996] described what they considered a new type of PMD, namely, type Caroline Crachami.…”

“…Other features considered of importance in differential diagnosis are reported more qualitatively, such as a steep or sloping forehead, the presence and degree of micrognathia, the nature of the dentition, the degree of arching of the palate, the shape and volume of the sella turcica, the presence and degree of hypertelorism, the nature of the nasal bridge, as well as the presence and degree of maxillary hypoplasia, and the absence of a chin. In this context, a number of publications include low‐magnification radiographs [Saltzmann and Wein, 1952; Garn et al, 1965; Tsuchiya et al, 1981; Boscherini et al, 1996; Corsello et al, 1996; Shanske et al, 1997; Sigaudy et al, 1998]. Tsuchiya et al [1981] provide some cephalometric data relating to jaw relationships.…”