Kenny–Caffey syndrome: an Arab variant?

Abstract

We describe 2 unrelated Bedouin girls who met the criteria for the diagnosis of Kenny-Caffey syndrome. The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence. The 2 girls did not harbor the 22q11 microdeletion (the hallmark of the DiGeorge cluster of diseases) that we previously reported in another Bedouin family with the Kenny-Caffey syndrome (Sabry et al. J Med Genet 1998: 35(1): 31-36). This indicates considerable genetic heterogeneity for this syndrome. We also review previously reported 44 Arab/Bedouin patients with the same profile of hypoparathyroidism, short stature, seizures, mental retardation and microcephaly. Our results suggest that these patients represent an Arab variant of Kenny-Caffey syndrome with characteristic microcephaly and psychomotor retardation. We suggest that all patients with Kenny-Caffey syndrome should be investigated for the 22q11 microdeletion. Other possible genetic causes for the Kenny-Caffey syndrome or its Arab variant include chromosome 10p abnormalities.

Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome

“…The common dysmorphic features include microcephaly, deep-set eyes and microphthalmia,¯at nasal bridge and small nose, thin upper lip, micrognatia, abnormal dentition, small hands and feet. Other anomalies such as ear abnormalities, nystagmus, optic nerve coloboma and cryptorchidism have also been described (Sanjad et al, 1991;Hershkovitz et al, 1995;Sabry et al, 1999). The inheritance of this syndrome is compatible with the autosomal recessive model.…”

“…The HRD syndrome has signi®cant morbidity and mortality (Sanjad et al, 1991;Hershkovitz et al, 1995;Sabry et al, 1999). Therapeutic options are limited and at present are only palliative by correcting the hypocalcaemia and treating intercurrent infections (Hershkovitz et al, 1995).…”

Hypoparathyroidism‐retardation‐dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation—clinical report and review

“…Macrocephaly is commonly observed in patients with autosomal dominant KCS, and has also been described in AR KCS [Bergada et al, 1988], as was relative macrocephaly [Sarria et al, 1980]. The three other reports with AR KCS (see the online Table III at http://www.interscience.wiley.com/ jpages/1552-4825/suppmat/index.html) describe patients with rather unusual signs of KCS, such as microcephaly, early psychomotor retardation, and facial dysmorphism [Sabry et al, 1998[Sabry et al, , 1999Khan et al, 1997], and, therefore, Sabry proposed to call this unusual form ''the Arab variant of the KCS'' since all these patients were of Arab origin. As suggested by the recent molecular findings of similar mutations in the TBCE gene in SSS and AR KCS [Parvari et al, 2002], it is likely that both syndromes represent the same clinical entity.…”

Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait

“…Affected siblings, mainly as products of phenotypically normal consanguineous parents, have been reported in previous reports [2,[19][20][21][22]. Till now more than 26 patients have been reported, of whom more than half were familial [10, 19,20].…”