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Craniosynostosis and Syndactyly: Deletion Phenotype *

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J Med Genet: first published as 10.1136/jmg.17.6.480 on 1 December 1980. Downloaded from 480 Case reports Discussion References Shaw MW, Falls HF, Beel JV. Congenital aniridia. The congenital anomaly described here has not, to Am J Hium Genet 1960;12:389-415. our knowledge, been reported before, either sporadic- 2 Grove JH, Shaw MW, Bourque G. A family study of ally or in kindreds with aniridia. It can be distin- aniridia. Arch Ophthalmol 1961 ;65:81-94. 3 Pincus MH. Aniridia congenita. Arch Ophthalnm.l 1948; guished from primary anophthalmos, a rare auto- 39 :60-6. somal recessive trait, by the complete absence of 4 Reed TE, Falls HF. A pedigree of aniridia with a dis- eyes and of palpebral fissures. In true primary cussion of germinal mosaicism in man. Am J Hiumii Genet anophthalmos only the ectodermal elements are 1955 ;7:28-38. 5 Elsas FJ, Maumenee IH, Kenyon RK, Yoder F. Familial missing, and the orbit is usually present with eyelids aniridia with preserved ocular function. Am J Ophthalmnol and small palpebral fissures; this condition has not 1977;83:718-24. been associated with adrenal and skull defects.6 6 Mann 1. Developmental abnormlalities of the eve. London: Cryptophthalmos, a rare autosomal recessive dis- British Medical Association. 1957:60-6. 7 Riccardi VM, Sujansky E, Smith AC, Francke U. Chromo- order, is characterised by an absence of palpebral somal imbalance in the aniridia-Wilms' tumor associa- apertures.7 The eyes in such cases are usually present, tion: lIp interstitial deletion. Pediatrics 1978;61:604-10. although malformed and microphthalmic, and the 8 Sloderbeck JD, Maumenee IH, Elsas FE, et al. Linkage nose is not usually abnormal, in contrast to our case. assignment of aniridia to chromosome 1. Al?? J Horm While there is no proof that the defects described Genet 1975 ;27:83A. in our case were genetically determined, it seems Requests for reprints to Dr S V Hodgson, Paediatric highly likely that they were a consequence of the Research Unit, The Prince Philip Research Labora- mating between two parents with aniridia. If this is tories, Guy's Hospital, London SEl 9RT. so, it is possible that this dramatic defect represents the effect of the homozygous condition. Aniridia could therefore strictly be described as 'intermediate' to this severe homozygous phenotype. Craniosynostosis and syndactyly: It may well be relevant that pregnancies resulting expanding the llq- chromosomal from matings between aniridics have a poor out- copyright. come; of the 13 pregnancies known, including three deletion phenotype * in our patient, only five live children resulted, four with aniridia. The high pre- and perinatal death rate SUMMARY A patient with a partial deletion could betheresult offetuseswithhomozygous aniridia. 1 It is possible that the adrenal aplasia in this fetus (q23-*qter) of the long arm of chromosome I represents the homozygous state of a recessive gene presented with craniosynostosis and syndactyly. linked to aniridia, which is not apparent in the These characteristics, which have not been heterozygote, but this is obviously speculative. The previously reported with 11 q-, expand the http://jmg.bmj.com/ location of the aniridia gene itself remains uncertain. phenotype of this syndrome and emphasise The usually sporadic cases of aniridia with Wilms's the need for chromosome analysis with banding tumour in which an lip interstitial chromosome techniques in multiple congenital anomaly deletion has recently been found7 indicate a position syndromes, even if the patient could be classified on chromosome 11. However, other workers using as having a non-chromosomal syndrome. linkage studies have suggested that the hereditary type of aniridia has its locus on chromosome 1.8 We recently evaluated a patient with craniosyno- on September 28, 2021 by guest. Protected Perhaps the occurrence of adrenal aplasia in our case stosis of the sagittal suture and syndactyly and will help further in the location of the aniridia gene. found an 1 1q23-*qter deletion. Since neither of these two predominant features has been previously We would like to thank Professor P Polani and reported in association with this chromosomal Dr A C Berry for their advice and help in preparing anomaly, this case significantly expands the clinical this manuscript. spectrum of this 'syndrome'. S V HODGSON* AND K E SAUNDERSt Case report *Paediatric Research Unit, The Prince Philip Research Laboratories, The patient presented at 26 months of age for Guy's Hospital, Guy's Tower, *Supported in part by grants HD-05615 and HD-04612 London SE] 9RT; from the National Institute of Child Health and Human t Consultant Pathologist, Development Woolwich Group Hospitals Received for publication 25 February 1980 J Med Genet: first published as 10.1136/jmg.17.6.480 on 1 December 1980. Downloaded from Case reports 481 evaluation of short stature and developmental delay. plastic (fig 1). Soft tissue syndactyly of the 3rd and She was the 3-4 kg, 46 cm long product of an un- 4th digits of the hands was noted and confirmed by complicated pregnancy. Physical examination sug- x-ray, as was syndactyly of the 2nd and 3rd toes gested sagittal suture cranial synostosis which skull bilaterally. The 12th left rib was absent. Cardiac x-rays confirmed. An uncharacterised heart murmur evaluation revealed a grade 2/6 systolic murmur was also noted. Craniectomy was scheduled at 5 along the left sternal border. There were mild knee months but was delayed for evaluation of a possible contractures and bilateral planovalgus feet. Muscle tendency towards increased bleeding. The bleeding tone was generally hypotonic and gross motor, fine and clotting studies were all normal except for a motor, speech, and adaptive social skills were all slightly prolonged PTT. While surgery was there- delayed. Developmental assessment at the age of fore not contraindicated, the postponement resulted 40 months showed significant delay, with gross and in a reassessment of the cranial anomaly which fine motor skills at 21 months, language at 24 appeared to be non-progressive and surgery was months, and adaptive social skills at 18 to 24 months. deferred. Dermatoglyphs showed bilateral t palmar axial When next examined at 26 months she was 76-3 triradii, four ulnar loops and one whorl on the left cm tall (>3 SD below the mean), weighed 10-7 kg hand, and three ulnar loops, one radial loop (5th (3 SD below the mean), had an US/LS of 1-78, and finger), and one arch on the right hand. a head circumference of 50 cm (90th centile). She Laboratory evaluation revealed a normal T4 appeared dolicoscaphocephalic with coarse facies, (9*4 Vg/dl), normal electrolytes and creatinine, a hypertelorism, a high arched palate, low set ears, bone age of 1 year 6 months, and normal urine medial epicanthal folds, a broad nasal bridge, and amino-acid chromatography. Electrocardiogram a small upturned nose, but long philtrum. The upper showed right axis deviation, right atrial enlargement, lip was thin and the mandible small but not hypo- and right ventricular hypertrophy. Chest x-ray was normal except for the absent 12th rib. A diagnosis of small ventricular septal -defect was made. Brain CT scan revealed mild symmetrical ventricular enlargement, and repeat skull series confirmed the copyright. uncorrected sagittal synostosis. The mother was aged 22 years at conception and was gravida 4, para 2, aborta 2 (at 2 months and 6 months without pathological evaluation of either abortus). The father was aged 26 years at con- ception. Both parents are reported to be of average intelligence. The older sister of the proband is developmentally and phenotypically normal. http://jmg.bmj.com/ CYTOGENETIC EVALUATION FIG 1 Front and side view ofproband aged 2 years. Trypsin-Giemsa (TG) chromosome banding from . 's t .: :: -Al W, .1-4. -.. :: ) if i -0 a .:.4 .:. v.:1. it on September 28, 2021 by guest. Protected ::- -W *Nt ; !A " ; :. L t'l. X*w 7 F 9 FIG 2 Upper panel. Partial trypsin-Giemsa banded karyotype from the proband. The arrow points to the deleted chromosome 11, which appears to show a terminal deletion distal to q23. Lower panel. Partial C group karyotype of the proband stainedfor R bands. The absent distal dark band of the deleted chromosome 11 (arrowv) is compatible with a terminal deletion distal to q23. J Med Genet: first published as 10.1136/jmg.17.6.480 on 1 December 1980. Downloaded from 482 Case Irepor-ts cells of both blood and skin fibroblasts revealed a TABLE The clinicalfeatures of llq- conmpared to olur non-mosaic partial deletion of the long arm of patient and Apert's syndrome chromosome 11 distal to band q23. Reverse (R) Clinical features llq- Present patient Apert's syndronte banding showed absence of the distal dark band, Growth retardation -t compatible with a terminal deletion of the long arm Mental retardation + --+- of chromosome 11 distal to q23 (fig 2). Thus, the Syndactyly - -+ Cranial synostosis patient's karyotype is 46,XX,del(l 1)(q23->qter). TG Cardiac defects +- - - banding of both parents was normal. Trigonocephaly - - + gene Narrow palate Examination of the patient's blood for Hypertelorism markers showed no abnormal inheritance patterns. Pyloric stenosis 2/14 - Increased Specifically she was not missing any allele that she incidence should have inherited from either parent. She was 'homozygous' for the following gene markers: Rh, have been erroneously categorised as atypical Jk, P, Akj, 6PGD, ADA, PGM2, EsD, GOT, Gc, Apert's syndrome is suggested by the occurrence of E-1, E-2. She was heterozygous for the following two cases of pyloric stenosis in fourteen I I q- markers which excludes their location on the patients, and the reported increase of this abnormal- deleted chromosomal segment: PGM1, ACP-1, ity in Apert's syndrome.4 Similarly, the incidence of GPT, GALT, GLO-1, Hp, AMY-2, ABO, MNSs, mental retardation is said to vary in Apert's syn- Fy.
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