Microtia and short stature: a new syndrome.

Abstract

Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the epiphyses. This unusual combination of features has many similarities to the syndrome described by Hurst et a].In 1988 Hurst et all described two unrelated males with small ears, short stature, absent patellae, characteristic facial features, and skeletal anomalies. The boys were matched through the London Dysmorphology Database 'unknowns' group. Both boys had in addition unusual and similar radiographic findings. In particular, there were flat, abnormally modelled glenoid fossae with dislocation of the radial heads and hooked clavicles. Bone age was markedly delayed with abnormal epiphyses in both children. The two boys differed in that the second boy died at 4 days of age and was found to have an atrial septal defect, small adrenal glands, and bilateral hydronephrosis, while the other remained well aged 4j years but was found to have an IQ of 60 and craniosynostosis.

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs

“…This occurrence of the syndrome in more than one member of a family lends support to the hypothesis that it is an autosomal recessive trait, as proposed by Cohen et al [1991] and by Boles et al [1994]. These researchers have both described two sisters with the Meier-Gorlin syndrome.…”

“…The craniofacial findings in D.V. were less abnormal and, as such, more reminiscent of those of other reported patients [Cohen et al, 1991;Boles et al, 1994]. Besides the findings listed in Table I, shedding of the deciduous teeth had not yet started at age 7 years in the younger brother and had not been completed at age 9 1 ⁄2 years in the older brother.…”

“…It was found to be normal in both sets of sisters reported by Cohen et al [1991] and by Boles et al [1994]. In the first patient reported by Hurst et al [1988], the IQ was below 60.…”

“…The first comprehensive evaluation of the brothers occurred at the late childhood ages of 7 years, 3 months, and 9 years, 6 months, respectively, when their syndrome of prenatal-onset small stature, near normal postnatal growth rate, multiple craniofacial anomalies, and hearing loss was fully expressed and considered congruent to the condition described previ- ously in 10 patients with the ear-patella-short stature syndrome, or the Meier-Gorlin syndrome [Meier and Rothschild, 1959;Gorlin et al, 1975;Hurst et al, 1988;Cohen et al, 1991;Boles et al, 1994;Buebel et al, 1996] (Table I). This occurrence of the syndrome in more than one member of a family lends support to the hypothesis that it is an autosomal recessive trait, as proposed by Cohen et al [1991] and by Boles et al [1994].…”

Meier‐Gorlin (ear‐patella‐short stature) syndrome: Growth hormone deficiency and previously unrecognized findings

“…Ear-patella-short stature syndrome (MGS) has become one of the increasingly recognized disorders and to date, at least cases of 35 patients have been published [Meier et al, 1959;Gorlin et al, 1975;Hurst et al, 1988;Cohen et al, 1991;Boles et al, 1994;Lacombe et al, 1994;Buebel et al, 1996;Teebi and Gorlin, 1997;Fryns, 1998;Loeys et al, 1999;Verhallen et al, 1999;Terhal et al, 2000;Bongers et al, 2001;Cohen et al, 2002;Feingold, 2002;Shalev and Hall, 2003;Dudkiewicz and Tanzer, 2004]. We observed a new patient with a previously unrecognized finding.…”