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Syndrome? J Med Genet: First Published As 10.1136/Jmg.34.1.79 on 1 January 1997

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Syndrome? J Med Genet: First Published As 10.1136/Jmg.34.1.79 on 1 January 1997 I Med Genet 1997;34:79-82 79 Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? J Med Genet: first published as 10.1136/jmg.34.1.79 on 1 January 1997. Downloaded from S Worthington, A Colley, K Fagan, Kang Dai, A H Lipson* Abstract advanced maternal age, was reported as a nor- We report three cases of velocardiofacial mal male karyotype. The neonatal period was syndrome (VCFS) with anal anomalies complicated by hypotonia and feeding diffi- who have deletions of the 22qll region culties and gastro-oesophageal reflux. Con- and a further case where the proband has stipation owing to anal stenosis was a problem VCFS clinically and her father has an anal from the first month of age. At 7 months anomaly. It is important to consider VCFS of age he underwent an anoplasty which was in the differential diagnosis of children successful in treating the constipation. with anal anomalies and to look for other He had significant global developmental and features of the syndrome, such as asym- expressive speech delay with a normal hearing metrical crying facies, submucous cleft of assessment. A skeletal survey showed spina the palate, developmental delay, cardiac bifida occulta. At 4 years of age he was referred anomalies, and hypoparathyroidism. to a child development unit where the diagnosis (J Med Genet 1997;34:79-82) of VCFS was suggested. Review by a geneticist confirmed facial dysmorphic features (fig 1) of Keywords: anal anomalies; velocardiofacial syndrome; micrognathia, almond shaped palpebral fis- 22ql deletion. sures, deficient alae nasi, broad nasal bridge, prominent dysplastic ears, and a short, hy- potonic palate with a single uvula. Cardio- The 22q1 1 deletion disorders include velo- vascular examination was normal and his height cardiofacial syndrome (VCFS),' the DiGeorge was on the 3rd centile. A diagnosis of VCFS sequence (DGS),23 conotruncal anomaly face was made clinically and FISH studies with the syndrome,4 Cayler's cardiofacial or asym- Oncor N25 probe confirmed a deletion of the metrical crying facies syndrome,5 and chromosome 22q 1 1 region. The family history "CATCH 22".6 They consist of a wide spec- was unremarkable with neither parent having trum of clinical manifestations some of which VCFS clinically. FISH studies are not available are explained by abnormal migration of neural on the parents. crest cells.7 Anal anomalies occur in approximately 1 in http://jmg.bmj.com/ 5000 live births.8 They occur in many syn- dromes and have been commonly described in Department of association with other malformations.9 Cardio- Clinical Genetics, vascular (CVS) anomalies, most commonly Sydney Children's ventricular Hospital, High Street, septal defect and tetralogy ofFallot, Randwick, NSW 2031, are reported to occur in 7-22% of cases with Australia imperforate anus.'0 Other associated anomalies on October 1, 2021 by guest. Protected copyright. S Worthington include spina bifida, genitourinary ab- Cytogenetics normalities, limb defects, and tracheo-oeso- Department, Hunter phageal fistulae.9"0 Anal anomalies have been Area Pathology reported infrequently in the 22qll deletion Service, Newcastle, NSW, Australia disorders."1-13 K Fagan We report three cases of VCFS with anal K Dai anomalies who have deletions of the 22qll Department of region detected using fluorescent in situ hy- Clinical Genetics, bridisation (FISH). A further case is presented Liverpool, NSW, where the proband has VCFS clinically and her Australia A father an anal anomaly and mental retardation, Colley presumably because of VCFS. Department of Clinical Genetics, Royal Alexandra Hospital for Children, Case reports PO Box 3515, Paramatta NSW 2124, CASE 1 Australia Case 1, a male, the second child of unrelated A H Lipson (*deceased) parents, was born at 38 weeks' gestation by Correspondence to: caesarean section with a birth weight of 2640 g Dr Worthington. (1Oth centile), length 40 cm (<3rd centile), and Received 12 January 1996 OFC 32.8 cm (1Oth centile). The pregnancy Revised version accepted Figure 1 Case 1: congenital anal stenosis. Note for publication was uneventful. Chromosomal analysis of am- micrognathia, almond shaped palpebral fissures, deficient 6 August 1996 niocytes at 16 weeks' gestation, performed for alae nasi, and broad nasal bridge. 80 Worthington, Colley, Fagan, Dai, Lipson excision of the fistula. The family history was unremarkable. His subsequent course was complicated by slow growth, and expressive speech delay with hypernasal speech. He was referred to a cleft J Med Genet: first published as 10.1136/jmg.34.1.79 on 1 January 1997. Downloaded from palate clinic for speech review where he was seen by a geneticist who noted myopathic fa- cies, deficiency of the alae nasi, almond shaped palpebral fissures, maxillary and mandibular hypoplasia, and small dysplastic ears (fig 2). His palate was short and the uvula grooved. Cardiovascular examination was normal and his height was on the 3rd centile. These features were consistent with VCFS and FISH studies with the Oncor N25 probe confirmed a deletion of the chromosome 22ql 1 region. His parents did not have VCFS clinically; FISH studies of the parents are not available. At 5 years of age, during induction of anaesthesia for pharyn- goplasty, a diagnosis of anterior laryngeal web, subglottic stenosis, and thickened cricoid car- tilage was made. CASE 3 Case 3 was the second child of non-con- sanguineous, healthy, Dutch parents. He was born at 40 weeks' gestation by normal vaginal delivery following an uneventful pregnancy. Figure 2 Case 2: covered anus with perineal fistula. Gastro-oesophageal reflux, poor oral motor Note almond shaped palpebral fissures, maxillary and function, and hypotonia were significant prob- mandibular hypoplasia, and small dysplastic ears. lems from birth. At 3 months of age he de- veloped constipation which persisted despite medical treatment. Anal stenosis was diagnosed CASE 2 at 10 months of age and was initially treated Case 2, a 5 year old male, the second child of with anal dilatation but without success. On non-consanguineous parents, was born at 40 examination under anaesthesia there was a tight weeks' gestation by normal vaginal delivery. fibrous anal ring which required surgical treat- Labour was complicated by fetal distress with ment. Surgery consisting of sphincterotomy meconium stained liquor. Apgar scores were 5 and anoplasty was performed at 17 months of http://jmg.bmj.com/ and 7 at one and five minutes respectively. He age. was resuscitated at birth, then intubated and At 3 years of age, he was referred to a ge- ventilated for 24 hours. Birth weight was 3000 g neticist for syndrome identification because of (1Oth centile). Hypothyroidism was detected severe expressive speech delay, mild global de- by newborn screening and treatment with thyr- velopmental delay, and hypotonia. He had hy- oxine was started. He was noted to have a pernasal speech with a bifid uvula and anus and a fistula at birth, hypotonic palate. His height, weight, and OFC covered perineal on October 1, 2021 by guest. Protected copyright. which were treated surgically by anoplasty and measurements were all on the 50th centile for age. His facial appearance consisted of almond shaped palpebral fissures, epicanthic folds, a broad nasal bridge with small alae nasi, and a smooth philtrum, as shown in fig 3. He had .4, ... joint laxity and tapering fingers with narrow 1. distal phalanges. His ears were normally situ- if. ... O. ated but had thickened helices. Hearing tests were normal. A sacral pit was noted but x rays showed no associated abnormalities of ,N,:., the vertebrae. An echocardiogram was normal Ai.. apart from an aberrant subclavian artery. A 0 d_ diagnosis of VCFS was made clinically and FISH studies with the Oncor N25 probe con- firmed a deletion (de novo) ofthe chromosome AOM 22ql1 region. #h His older sister was healthy with no learning problems. There was a strong familial facial appearance (fig 3). CASE 4 anal stenosis. His older sib is shown to indicate Figure 3 Case 3: congenital female (left) a 4 old the second child familial resemblance. Note almond shaped palpebral fissures, myopathic facies, broad Case 4, year female, nasal bridge, and deficient alae nasi. of a young, non-consanguineous couple, was Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? 81 born at term following an uneventful preg- tures of the 22ql1 deletion syndromes. An nancy. She was delivered by caesarean section infant with a clinical diagnosis of DGS was for cephalopelvic disproportion and fetal dis- reported with a ventricular septal defect (VSD), tress. Apgar scores were 9 and 9 at one and five cleft lip and palate, bilateral hydroureters, hy- minutes respectively. Birth weight was 3370 g pocalcaemia, and anal atresia."l Anteriorly J Med Genet: first published as 10.1136/jmg.34.1.79 on 1 January 1997. Downloaded from (50th centile), length 53 cm (90th centile), and placed anus was reported by Wilson et alt in one OFC 34 cm (50th centile). The neonatal period of 44 cases with a 22ql 1 deletion, McDonald- was complicated by hypoglycaemia, transient McGinn et all2 in two of 52 cases with VCFS, hypoparathyroidism, and cyanosis associated and DeSilva et al" in one of three cases of with a cardiac murmur. The absent pulmonary familial 22q deletion. Deletions of the chro- valve syndrome consisting of an absent pul- mosome 22ql 1 region have also been reported monary valve, pulmonary artery aneurysm, in Cayler syndrome,5 the association of con- ventricular septal defect, and bronchomalacia genital hypoplasia of the depressor anguli oris was diagnosed on day 3. This cardiovascular muscle with congenital heart disease. Im- anomaly was associated with a right aortic arch. perforate anus and anal stenosis have occurred Surgery consisted of homograft re- in four patients with Cayler syndrome; how- construction of the pulmonary artery and clos- ever, they were not investigated for the pos- ure of the ventricular septal defect at 5 months sibility of a 22ql 1 deletion."718 of age.
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