Clin Genet 1999: 55: 44–49Printed in Ireland. All rights reser6ed

Short Report

Kenny–Caffey syndrome: an Arab variant?

Sabry MA, Farag TI, Shaltout AA, Zaki M, Al-Mazidi Z, AbulhassanSJ, Al-Torki N, Quishawi A, Al Awadi SA. Kenny–Caffey syndrome:an Arab variant?Clin Genet 1999: 55: 44–49. © Munksgaard, 1999

We describe 2 unrelated Bedouin girls who met the criteria for thediagnosis of Kenny–Caffey syndrome. The girls had some unusual fea-tures – microcephaly and psychomotor retardation – that distinguishthe Kenny–Caffey syndrome profile in Arab children from the classicalKenny–Caffey syndrome phenotype characterized by macrocephaly andnormal intelligence. The 2 girls did not harbor the 22q11 microdeletion(the hallmark of the DiGeorge cluster of diseases) that we previouslyreported in another Bedouin family with the Kenny–Caffey syndrome(Sabry et al. J Med Genet 1998: 35(1): 31–36). This indicates consider-able genetic heterogeneity for this syndrome. We also review previouslyreported 44 Arab/Bedouin patients with the same profile of hypo-parathyroidism, short stature, seizures, mental retardation and micro-cephaly. Our results suggest that these patients represent an Arabvariant of Kenny–Caffey syndrome with characteristic microcephalyand psychomotor retardation. We suggest that all patients withKenny–Caffey syndrome should be investigated for the 22q11 mi-crodeletion. Other possible genetic causes for the Kenny–Caffey syn-drome or its Arab variant include chromosome 10p abnormalities.

MA Sabrya, TI Farage,AA Shaltoutb, M Zakic,Z Al-Mazidid, SJ Abulhassana,N Al-Torkia, A Quishawic andSA Al Awadiaa Kuwait Medical Genetics Centre,b Pediatrics Department, Amiri Hospital,c Pediatrics Department, FarawaniyaHospital, d Paediatric Endocrinology Unit,Sabah Hospital, Kuwait, and e DalhousieUniversity, Halifax, Canada

Key words: dwarfism – episodichypocalcemia – Kenny–Caffey syndrome

Corresponding author: MA Sabry, 4 Chan-nel Close, Rhoose, Vale of Glamorgan,CF62 3EH, UK. E-mail:john.wrycraft@dial.pipex.com

Received 12 August 1998, revised and ac-cepted for publication 18 September 1998

A syndrome of marked dwarfism, episodichypocalcemia, medullary stenosis of the long tubu-lar bones and vertical inheritance was first de-scribed by Kenny and Linarelli (1). This wasfollowed by a detailed description of its radiologi-cal features by Caffey (2). Since then, several re-ports have accumulated delineating the features ofthat new entity which was designated as Kenny–Caffey syndrome (KCS) (3–8) and was presumedto have a dominant pattern of inheritance (OnlineMendelian Inheritance in Man (OMIM) 127000)(9). In 1980, Sarria et al. raised the possibility of anautosomal recessive mode of inheritance in a groupof patients with KCS (10). The same idea of apossible autosomal recessive transmission in agroup of patients with KCS was then reiterated byBergarda et al. on the basis of parental consan-guinity in a family with a single affected child (11).Autosomal recessive inheritance was also suggestedby Franceschini et al. in a third family with twoaffected siblings (12). Thus, a subgroup of patientswith KCS and an apparent autosomal recessiveinheritance has emerged (OMIM 244460).

The most consistent documented findings ofKCS include cortical thickening and medullary

stenosis of the long bones (in 96.2% of cases),growth retardation (92.3%), normal intelligence(88%), hypocalcemia/tetany (85%), ocular anoma-lies (70.8%) and low parathyroid hormone (58.3%),in addition to some dysmorphic facial features andsmall hands and feet (12). Important occular signsinclude microphthalmia, corneal opacity, myopia/hyperopia, optic atrophy, macular clouding, pa-pilledema/pseudopapilledema, calcium depositionin cornea and retina and tortuous retinal vessels.Other traits with variable presentation in the syn-drome are hypoplastic nails and neonatal liverdisease. Laboratory defects in KCS include thepresence of low serum calcium and magnesium,high serum phosphorus, neonatal hypoparathy-roidism, sometimes with anaemia, eosinophilia andpersistent neutropenia. Immunological defects ofthe syndrome include an increased suppressor T-cell fraction with the consequent low helper/sup-pressor ratio, in addition to reduced T-cellresponse to mitogens (12).

Several reports from Arab countries have de-scribed a Kenny–Caffey-like phenotype of hypo-parathyroidism, short stature, mental retardationand seizures (OMIM 241410), which has some

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unusual features that have not been emphasized asa prominent part of the classical KCS phenotypereported from other parts of the world (13–19).These special features include marked intrauterinegrowth retardation, severely delayed psychomotordevelopment and microcephaly. The classical KCSprofile, however, is characterized by the presenceof normal intelligence, late closure of the anteriorfontanelle, macrocephaly and postnatal (ratherthan prenatal) growth retardation. The same phe-notype (with characteristic microcephaly and psy-chomotor retardation) was recently described bySabry et al. in a Bedouin family with 4 affectedsiblings (21, 22). In addition, a report by Khan etal. documented a group of Bedouin children withthe same Arab phenotype and was listed under theautosomal recessive entry of KCS (OMIM 244460)(20), although they too fulfill the criteria describedabove (microcephaly and psychomotor retarda-tion) that are given a separate entry in McKusick’scatalogue (9).

The index cases in our previous report (21, 22)were found to have a maternally transmitted chro-mosome 22q11 hemizygous microdeletion thatcharacterizes a cluster of diseases including DiGe-orge syndrome, velocardiofacial syndrome andconotruncal anomaly face syndrome (23, 24). Wedescribe here 2 additional unrelated cases with thesame Arab phenotype who, in contrast, were notfound to have the 22q11 microdeletion. Thus, thisreport and our previous report (22) emphasize asubstantial amount of genetic heterogeneity amongpatients with this phenotype.

With the intention of delineating the characteris-tic features of this Arab phenotype, we also reviewthe 46 reported cases in this study which representan Arab variant of KCS with characteristic micro-cephaly and mental/psychomotor retardation.

Case reportCase 1

The proposita in this family was normally deliv-ered at term in April 1994 to first-cousin Bedouinparents who had six phenotypically normal chil-dren and a history of one early abortion. A de-ceased male maternal first cousin reportedly had asimilar disease profile to that of the proposita. Inthe proposita, Apgar scores were 9, 10 and 10 at 1,5 and 10 min respectively, and her birth weight was2250 g. The patient had the first convulsive episodeat age 2 weeks when her serum calcium level was1.07 mmol/l, magnesium 0.63 mmol/l, phosphorus4.18 mmol/l, alkaline phosphatase 432 u/l andparathyroid hormone 5.5 pg/ml. She had severalhospital admissions for afebrile seizures that were

aborted with intravenous calcium gluconate andshe was maintained on 1-alpha drops and calciumsupplements.

She was found to have a narrow prominentforehead, large ears, deep-set eyes, small nose, an-teverted nostrils, thin lips, down-turned mouth,and small hands and feet with brachydactyly of thefingers and toes. Her weight, length and occipto-frontal circumference (OFC) were permanentlylagging behind the third percentile for her age andsex. Her cardiovascular system was clinically nor-mal, as were her chest X-ray and electrocardiogra-phy results. Repeated electroencephalographshowed an abnormal recording, with the basicactivity being slower than was normal for her age,consisting of theta and delta waves. A skeletalsurvey did not show any abnormality of longbones and there was no evidence of medullarystenosis. Gastro-oesophageal reflux was demon-strated on barium swallow. Thyroid function tests,serum urea and electrolytes were within the refer-ence range, as were the immunoglobulin profile,immunophenotyping, response to phytohemagglu-tinin, candida stimulation, purified protein deriva-tive (PPD) stimulation and total haemolyticcomplement. Fluorescence in situ hybridisation(FISH) technique did not detect 22q11.2microdeletion.

Case 2

The proposita in this family was born prematurelyin June 1990 by caesarean section after 32 weeksgestation due to placenta previa. The healthy par-ents were first cousins and had three phenotypi-cally normal children. The birth weight of theindex case was 1500 g and she was put in anincubator for 1 month because of congenitalhypocalcemia that was maintained on 1-alpha vita-min D and calcium chloride supplements. She wasdiagnosed with hypoparathyroidism at the age of 4months, and had a history of frequent bouts ofgastroenteritis, urinary tract infection (UTI), bron-chopneumonia and anaemia, for which she re-ceived a blood transfusion. On follow-up at age 7years, her height was 80.5 cm, weight 7 kg andOFC 41.5 cm. She was found have to a narrow,prominent forehead, deep-set eyes, a short hookednose, down-turned mouth, micrognathia, smallhands and feet, brachydactyly, and clinodactyly ofthe fifth fingers and third and fourth toes. Chest,heart and central nervous system examination wasunremarkable. Serum calcium was 1.65 mmol/l(reference range (RR) 2.2–2.8), phosphorus 3.95mmol/l (RR 0.8–1.4), albumin 36 g/l and alkalinephosphatase 280 i.u./l; parathyroid hormone

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(PTH) level was below normal. She had delayeddevelopment of motor skills and delayed speech.Chest X-ray showed normal heart and thymusshadows. The eletrocardiogram was normal, aswere liver/kidney/thyroid-function tests. A skeletalsurvey did not show medullary stenosis of longtubular bones. Bone age was approximately 1 yearless than chronological age. Head CT scan wasnormal. Partial growth hormone deficiency wasidentified via a growth hormone stimulation(clonidine) test. Insulin-like growth factor-1 (IGF-1) was 4.7 mmol/l. Cortisol after insulin tolerancetest (ITT) was normal. At age 3 years she wasmaintained on growth hormone (20 u/m2/week for6 months) without success. Immunological testingshowed normal B- and T-cell function and FISHdid not detect 22q11 hemizygosity.

Discussion

We describe 2 unrelated girls from Bedouinfamilies who met the criteria for the diagnosis ofKCS. Some distinctive traits were observed in thephenotype of the reported girls, namely micro-cephaly and psychomotor retardation, that distin-guish this phenotype from the classical profile ofKCS that is characterized by the presence ofmacrocephaly with delayed closure of thefontanelle and normal intelligence. The same ob-servation has been previously emphasized in tworecent reports of Bedouin patients with KCS (21,22, 20), in which the Bedouin patients fulfilled theKCS criteria and exhibited the same traits of mi-crocephaly and psychomotor retardation (Table 1).

The presence of such traits that characterize theKCS phenotype in Arab patients has presumablycaused some confusion in the diagnosis of suchcases. To that effect, reports (13–18) of some Arabchildren with the phenotype described above ((21,22, 20) and the present report) have been put intoa totally separate category (OMIM 241410) (9).This has prompted us to review the medical litera-ture for cases with the above-mentioned phenotypein an attempt to determine whether it represents aseparate syndrome or an Arab variant of KCS.

We found 56 reported patients with the Arabphenotype (including the 2 Bedouin girls in thisreport). Forty-six of these patients were clinicallyevaluated in different centers in the Middle East(reviewed in Table 1). Ten more siblings of affectedcases were mentioned in some reports as havingthe same phenotype (14, 20). A potential for evenmore affected persons among other relatives of theclinically assessed cases also exists (16).

Consistent features of the phenotype include thepresence of microcephaly, congenital hypocalcemia

and deep-set eyes in all cases. Pre/postnatal growthretardation was detected in 93/98% of cases, con-genital hypoparathyroidism (93%), small hands/feet (91%), micrognathia (89%), depressed nasalbridge (86%), thin upper lip (80%) and hooked/small nose (75%). Microphthalmia and delayedbone age were detected in 50% of the cases. Othervariable features include the presence of ear abnor-malities (48%), prominent forehead (43%), seizures(40%), abnormal dentition/caries (33%), infection(31%), micropenis/cryptorchidism (31%), abnormalT-cell number/function (30%), deficiency of growthhormone/IGF-1 (28%), isotropia/hypermetropia/squint (21%), long philtrum (20%), corneal opac-ity/cataract (17%), osteopenia (9%), nystagmus(9%) and intracranial calcification (6%). Featuresrarely represented included abnormal im-munoglobulin profile, hyperostosis, nephrocal-cenosis, bifid uvula and distal renal tubularacidosis.

It is clear that the main features of the Arabphenotype are very similar to the KCS phenotypewith the characteristic presence of microcephaly in100% of cases versus the prevalence of macro-cephaly in classical KCS cases. In addition, mentaland psychomotor retardation is a regular finding in98% of Arab cases, while normal intelligence is therule in KCS, with mental retardation being re-ported in only 12% of cases (Table 1). Other less-significant differences include the prenatal natureof growth retardation in Arab patients, which isusually postnatal in KCS. While medullary steno-sis of the long bones seems to be the most consis-tent finding in KCS (detected in 96% of cases), it isseen in 67% of Arab cases (Table 1). This lastfigure, however, seems to be an under-estimatesince in the report by Sanjad et al. there was nomention of any radiological assessment for the 12patients ascertained to verify the presence or ab-sence of medullary stenosis ((15), see table). Inlight of the striking similarity between KCS andthe Arab phenotype, it seems plausible to suggestthat this phenotype should be considered as anArab variant of KCS (AVKCS) with characteristicmicrocephaly and psychomotor retardation, ratherthan being seen as a separate syndrome.

Thus far, 7 Bedouin patients with AVKCS havebeen investigated for the 22q11 microdeletion, in-cluding 3 Bedouins reported by another group(18), our 2 previously reported Bedouin patients(21, 22) and the 2 cases in the present report. Weidentified the 22q11 haploinsuffiency in our 2 pre-viously reported Bedouin patients (21, 22). How-ever, the 22q11 microdeletion was not detected inthe 2 girls with AVKCS documented in the presentreport, neither was it detected in the 3 Bedouin

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Table 1. Phenotypic variables of 46 reported cases with hypoparathyroidism, short stature, seizures, mental retardation and microcephaly

(15) (16) (17)Traits (18) (20) (19) (21, 22) Present(14) Total % Classicalpaper KCS (%)

12 1 1 6 11 1 4 2 46Number 26811/12 1/1 1/1 3/6 11/11 1/1 4/4 2/28/8 42/46Consanguinity 94

GeneralIUGR 7/7 12/12 1/1 1/1 5/6 10/11 1/1 4/4 2/2 43/46 93

8/8PNGR 12/12 1/1 1/1 6/6 10/11 1/1 4/4 2/2 45/46 98 3012/12 1/1 1/1 6/6 6/7 1/18/8 2/2 2/2 39/40 98 12Developmental delay

3/8Infection 3/12 1/1 0/1 0/6 ? 0/1 4/4 0/2 11/35 310/12 1/1Seizures 1/1 0/6 10/11 0/1 4/4 2/2 18/46 40 590/80/12 1/1 0/1 0/6 ? 0/1 4/4 0/20/8 5/35 14Apnea

ClinicalCranial

12/12 1/1 1/1 6/6 11/11 1/18/8 4/4Microcephaly 2/2 46/46 100 00/8Prominent forehead 10/12 1/1 0/1 3/6 0/11 1/1 3/4 2/2 20/46 43

Ocular 100 7112/12 1/1 1/1 6/6 11/11 1/18/8 2/2Deep-set eyes 2/2 44/44 100

0/8Microphthalmia 6/12 0/1 0/1 3/6 11/11 0/1 3/3 0/2 23/45 515/12 0/1 0/1 0/6 ? 0/1 2/2Refractory errors 0/2 7/33 210/81/12 0/1 0/1 0/6 ? 0/11/8 4/4 0/2 6/35 17Opacities

0/8Nystagmus 3/12 0/1 0/1 0/6 ? 0/1 0/4 0/2 3/35 9Facial

10/12 1/1 0/1 4/6 11/11 1/18/8 2/2Depressed nasal bridge 1/2 38/44 868/8Hooked/small nose 10/12 1/1 0/1 0/6 11/11 0/1 2/2 1/2 33/44 75

0/12 1/1 0/1 0/6Bifid uvula 0/11 0/1 0/4 0/2 1/46 20/80/12 1/1 0/1 0/6 0/11 0/18/8 0/2 0/2 9/44 20Long philtrum

8/8Thin upper lips 12/12 1/1 1/1 1/6 11/11 1/1 0/2 0/2 35/44 800/12 0/1 0/1 5/6 6/6 0/1 2/2Abnormal dentition 0/2 13/39 33 670/8

10/12 1/1 1/1 5/6 11/11 0/18/8 2/2Micrognathia 1/2 39/44 898/8Ear anormalies 10/12 1/1 0/1 1/6 ? 1/1 0/2 0/2 21/44 48

Limbs10/12 1/1 0/1 4/6 11/11 0/10/8 2/2 2/2 40/44 91Small hands/feet

Genitalia4/6 —Cryptorchidism/micropenis — 1/3 0/2 0/1 — — 5/16 310/4

Biochemical12/12 1/1 1/1 6/6 9/11Congenital hypo-parathyroidism 1/1 3/3 2/2 41/44 93 586/712/12 1/1 1/1 6/6 11/11 1/1 4/4 2/2 46/46 100 86Congenital hypo-calcaemia 8/80/8 0/1 1/1 2/6 ? ?3/3 0/4GH/IGF1 deficiency 1/2 7/25 281/12 0/1Distal RTA 0/1 0/6 0/11 0/1 0/4 0/2 1/46 20/8

Immunological0/5 0/1 ? 0/6 ? ? 2/2Abnormal T-cells 0/2 6/20 304/40/5 1/1 ? 0/6 ? ? 0/2 0/20/3 1/19Abnormal immunoglobulin 5

RadiologicalMedullary stenosis 7/8 ? 1/1 0/1 0/6 10/11 1/1 2/2 0/2 21/32 67 96Delayed bone age 0/8 ? 1/1 1/1 6/6 7/11 0/1 0/2 1/2 16/29 55 60

? 1/1 1/1 0/6 0/11 1/10/8 0/2 0/2 3/32 9Osteopenia?Intracranial calcification 1/12 0/1 0/1 0/4 0/11 0/1 1/2 0/2 2/34 6

0/12 0/1Nephro-calcinosis. 0/1 0/6 ? 0/1 0/4 0/2 1/35 31/8

Associated diseasePyloric stenosis Asplenia Small pituitary Optic nerve coloboma — Reduced myelination — —B thalasemia

Sabry et al.

patients previously investigated by another groupfrom the Middle East (18). Apparently, there isconsiderable genetic heterogeneity among patientswith KCS. This calls for more efforts to evaluatethis genetic heterogeneity in order to determine theexact incidence of 22q11 haploinsuffiency amongthe KCS patients, and to characterize other possi-ble genetic mechanisms in these patients, includingthe potential for haploinsuffiency at chromosome10p in a subset of patients (25). This would beanalogous to what has been described in DiGeorgesyndrome (26). It could be argued that the highdegree of consanguinity in the Bedouin communitysuggests an autosomal recessive inheritance inKCS. The situation here probably bears a similar-ity to Bernard Soulier syndrome, for which a singleautosomal recessive gene has been identified in thecritical 22q11 region. However, it is our opinionthat the comparison between KCS and BernardSoulier syndrome is not valid, since there is a realand considerable overlap between the phenotypesof KCS and DiGeorge syndrome which does nothold true for Bernard Soulier syndrome. In otherwords, it seems more likely that KCS is a contigu-ous gene syndrome rather than being the result ofa recessive gene that happened to be located within22q11, as is the case for Bernard Soulier syndrome.In addition, the widespread inbreeding amongBedouins would reduce the importance of thisparameter (parental consanguinity) in the analysisof the mode of inheritance.

In conclusion, the clinical analysis of the 46patients reviewed in this study (Table 1) suggeststhat the syndrome of hypoparathyroidism withshort stature, mental retardation and seizures(OMIM 241410) represents an Arab variant ofKCS. The report draws attention to the wide spec-trum of genetic heterogeneity in KCS/AVKCSwith the potential for different genetic mechanismsincluding haploinsuffiency at 22q11 or10p.

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