Morning glory anomaly with bilateral choroidal colobomas in a patient with Goldenhar's syndrome

A child with Goldenhar's syndrome, bilateral choroidal colobomas, and a morning glory anomaly of the optic disk in one eye is described. Bilateral posterior segment anomalies associated with Goldenhar's syndrome are rare. An association between the morning glory anomaly and Goldenhar's syndrome has not been previously reported.     

Goldenhar's syndrome

We present a report on 16 patients with Goldenhar's syndrome. The criteria we required for the diagnosis of Goldenhar's syndrome consisted of an eye abnormality (lipoma, lipodermoid, epibulbar dermoid, or upper eyelid coloboma) associated with ear, mandibular, or vertebral anomalies (two of the three). Although Treacher Collins' syndrome can be easily differentiated from Goldenhar's syndrome, the differences between Goldenhar's syndrome and hemifacial microsomia are more difficult to delineate.     

GOLDENHAR'S SYNDROME: DISCORDANCE IN MONOZYGOTIC TWINS AND UNUSUAL ANOMALIES

ABSTRACT. Goldenhar's syndrome occurring discordant in monozygotic twins and unusual anomalies associated with the syndrome–unilateral aplasia of the trigeminal nuclei and of the facial nerve, and a lateral lingual cleft–are reported.     

Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome]

The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.     

Goldenhar's syndrome associated with cardiac malformations.

A case of Goldenhar's syndrome associated with cardiac malformations such as single ventricle, atresia of pulmonary artery, and patent ductus arteriosus is described. The association of cardiac malformations with Goldenhar's syndrome is very rare and suggests that it is necessary to perform a careful clinical evaluation in this syndrome whether or not additional malformations may exist in visceral organs.     

The many faces of PHACE syndrome.

OBJECTIVES: PHACE is an acronym coined to describe a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities. We evaluated the spectrum of disease and significance of potential underlying brain anomalies among affected children. STUDY DESIGN: The records of 14 patients with PHACE syndrome, evaluated between 1995 and 2000, were retrospectively reviewed. A literature review revealed 116 additional cases. RESULTS: PHACE syndrome represents a spectrum of anomalies, because most affected children have only one extracutaneous manifestation. The syndrome is associated with a high incidence of arterial and structural central nervous system anomalies with secondary neurologic sequelae. The potential for progressive neurovascular disease also exists among those patients with anomalous vasculature. CONCLUSION: PHACE syndrome should be considered in any infant presenting with a large, segmental, plaque-type facial hemangioma. Children at risk should receive careful ophthalmologic, cardiac, and neurologic assessment.     

An epidemiological study of Hirschsprung's disease and additional anomalies

Russell MB, Russell CA, Niebuhr E. An epidemiological study of Hirschsprung's disease and additional anomalies. Acta Pædiatr 1994;83:68–71. Stockholm. ISSN 0803–5253.
The incidence of Hirschsprung's disease was studied in approximately 1.5 million consecutive live births in Denmark by hospital records. A diagnosis of Hirschsprung's disease required a histologic verified absence of ganglion cells in either biopsy or surgical colonic specimens. The incidence of Hirschsprung's disease was found to be 0.140 per 1000 live births (1:7,165) with a male: female ratio of 4.1:1 in short segment, and 2.4:1 in long segment Hirschsprung's disease (p = 0.36). Maternal age and birth order were unimportant factors. The association of Hirschsprung's disease and Down's syndrome was seen in 9 of the 207 patients and may represent a real association, whereas the association with congenital heart defects seen in 2% (not including patients with Down's syndrome) is more doubtful. A mortality of 16% among the patients with Hirschsprung's disease emphasizes the extreme importance of early diagnosis.     

Oculoauriculovertebral spectrum: New manifestations

We present a case of oculoauriculovertebral spectrum (hemifacial microsomia, Goldenhar's syndrome) found shortly after birth with right iliac hypoplasia, absent right public and ischial ossification centres and posterior urethral valves, which have not previously been described in this spectrum.     

Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features

Aim: PHACES syndrome is a neurocutaneous condition characterized by the coexistence of large facial haemangiomas and at least one feature among posterior fossa malformations, cardiac and arterial anomalies, eye defects and sternal clefting. We review and discuss the phenotypes and the endocrine aspects of PHACES syndrome, hypothesizing that endocrine anomalies, although rare, could be considered as feature of the disease. Methods: We described four new cases representative of the wide variable phenotype of this syndrome, commenting on the possible phenotypic expression. Results: Two children displayed endocrine anomalies, sporadically described among PHACES subjects. One of them developed a transient hyperthyreotropinemia induced by interferon alpha‐2α treatment for a giant facial haemangioma, while the second presented with congenital hypothyroidism with an in situ thyroid gland, a trait previously unreported in the syndrome. Conclusion: PHACES syndrome has a wide variable phenotypic expression and endocrine anomalies, especially hypothyroidism, may represent a trait of the syndrome and should be always investigated.     

免疫缺陷-染色体着丝粒不稳定-面部畸形综合征3例临床特点及基因分析

目的探讨免疫缺陷-染色体着丝粒不稳定-面部畸形(ICF)综合征的临床特征、免疫表型、基因诊断及治疗,提高对该病的认识。方法回顾性分析2018年1月至2019年12月复旦大学附属儿科医院临床免疫科诊断的3例ICF综合征患者的临床资料和全外显子组测序(WES)结果,结合文献复习,总结该病的临床特征和基因突变。结果 3例ICF综合征患者中,例1为ICF1综合征,例2和例3为ICF2综合征。3例患者均表现为反复感染,包括肺部感染、肠道感染、败血症等;均伴有特殊面容及智力发育落后;免疫功能提示免疫球蛋白减低,外周血B淋巴细胞存在不同程度减低甚至缺如,淋巴细胞亚群精细分型显示其中记忆性B细胞减低。例1患者染色体检查提示1号染色体着丝粒不稳定。WES结果显示3例患者均为复合杂合突变:例1为DNMT3B:c.922-2A>G,c.2476C>T;例2为ZBTB24:c.705del A,c.649-652del GAAG;例3为ZBTB24:c.1237-1247del,c.460A>T。其中ZBTB24基因的4个位点既往未见报道。结论对于反复感染伴有发育异常或特殊面容的儿童需考虑ICF综合征的可能,进一步完善免疫功能及基因检测明确诊断,以期早期发现、早期治疗,改善预后。     

A case of multiple deformities: upper harelip, tubercles of the auricle, anus in vulva]

The case presented of a newborn with multiple deformities: preauricular tubercles, left auricular roof deformity, labicachisis of the right upper lip, dermoid-type swelling on the left eye, deep labial fold at the left commissure and "forked" anus in vulva. Though the combination does not exactly match any syndrome, it has various points in common with Goldenhar's syndrome, of which it might be a phenotype variant. The single cause of the malformations might be an early (microvascular) disturbance of the primary segments in growth areas surrounding the cephalic and caudal segments, first of the medullary plate and subsequently of the primary medullary canal.     

HDR Syndrome (Hypoparathyroidism,Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease

Background

HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are reported in combination with Hirschsprung disease like DiGeorge syndrome, mosaic trisomy 8, XXY chromosomal constitution, partial duplication of chromosome 2q, tetrasomy 9p, and 20p deletion.

Case Presentation

Here, we describe an 8 year-old girl with HDR syndrome accompanied by Hirschsprung disease. Although the association of Hirschsprung disease with chromosomal anomalies has been reported, according to our knowledge, this is the first report of associated HSCR with HDR syndrome.     

Coffin-Lowry syndrome

OBJECTIVE: To promote the diffusion of the knowledge on the Coffin-Lowry syndrome and to contribute to the outline of the disease.METHODS: Case report.RESULTS: The clinical signs of a patient with the Coffin-Lowry syndrome are described and discussed.CONCLUSIONS: The Coffin-Lowry syndrome, a X-linked genetic disease, is probably underdiagnosed in Brazil. The typical facies, dental-skeletal anomalies and mental retardation suggest the diagnosis, which can be clinically established by radiographic study of the hands.     

A CASE OF JARCHO-LEVIN SYNDROME ASSOCIATED WITH BILATERAL CYSTIC RENAL DISEASE AND WILMS TUMOR: MR Imaging Findings

Jarcho-Levin syndrome (JLS) is a congenital disorder characterized by a variety of vertebral and costal anomalies that result in thoracic deformity. Hitherto, a plethora of associated anomalies have been described in several reports. In this report, the authors describe a case of JLS who has Wilms tumor and bilateral cystic renal disease. To the authors’ knowledge, there is only a single case of JLS who presented with multiple renal cortical cysts, but none with an associated Wilms tumor in the literature. Additional anomalies seen in the present case that are related with this syndrome are also discussed.     

Velo-cardio-facial syndrome

Velo-cardio-facial syndrome (VCFS) is the most common contiguous gene deletion syndrome in humans, caused by a microdeletion from chromosome 22 at the q11.2 locus. Moreover, it is one of the most common multiple anomaly syndromes associated with congenital heart disease and is certainly the most common syndrome causing conotruncal heart anomalies. The population prevalence of this syndrome is probably increasing because of the advances in the diagnosis and treatment of congenital heart malformations. Presenting symptoms are highly variable because VCFS is often the trigger for a number of developmental malformation sequences, including DiGeorge sequence, Robin sequence, and Potter sequence. Because of the variability of the phenotypic expression of VCFS, the disorder has been delineated in several sets of literature from different areas of specialization, and from publications in the U.S., Eastern Europe, and Japan. The result has been nosologic differences with various names for the same disorder caused by a 22q11.2 deletion, including VCFS, Shprintzen syndrome, DiGeorge syndrome, Sedlačková syndrome, Cayler syndrome, and conotruncal anomalies face syndrome. All of these labels represent exactly the same syndrome. Understanding the cause of the various phenotypes associated with VCFS is dependent on careful studies of genotype to phenoype matching. The deleted region in most cases of VCFS encompasses 3 million base pairs of DNA and 30 genes. The challenge is therefore to determine if the broad spectrum of anomalies are caused by one major gene, most or all of the deleted genes, or the interaction between the genes in the deleted region and other genes elsewhere in the genome. There is some evidence for each of these hypotheses. The ability to complete phenotype to genotype matching is enhanced by the recognition of more cases and the careful study of phenotypic expression. Towards this end, screening of cases with congenital heart disease is imperative and guidelines for screening are discussed.     

Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients

BACKGROUND: Vertebral anomalies may help differentiate Alagille syndrome from other causes of chronic cholestasis. We suspect significant under-reporting of vertebral anomalies in children with Alagille syndrome. OBJECTIVE: To compare the vertebral anomalies in Alagille syndrome with those in patients with chronic cholestasis due to other causes. The accuracy of original radiographic reporting was evaluated. MATERIALS AND METHODS: Spinal radiographs of 50 patients with Alagille syndrome and 31 non-Alagille syndrome cholestatic patients were evaluated retrospectively by four trained radiologists. The number, site and type of vertebral anomaly were noted. The consensus evaluation was then compared to the original report. RESULTS: Vertebral anomalies were found in 66% of patients with Alagille syndrome and 9.7% of cholestatic control subjects ( P<0.0005). In the patients with Alagille syndrome, incomplete fusion of the anterior arch, most frequently at the D6-9 level, accounted for 123 of 126 anomalies. Multiple vertebral anomalies occurred in 48% of patients with Alagille syndrome (mean 2.5 anomalies). Vertebral anomalies were misreported in 54% of cases of Alagille syndrome. CONCLUSIONS: Vertebral anomalies are significantly more common in Alagille syndrome than in chronic cholestasis of other causes and are frequently overlooked. Reporting should be undertaken by a radiologist familiar with the appearance and location of these vertebral anomalies.     

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

OBJECTIVE: To report the relative prevalence of various forms of congenital heart disease (CHD) in children with Noonan syndrome (NS) and to describe anatomic characteristics of the subgroup of patients with atrioventricular canal (AVC). STUDY DESIGN: Phenotypic and cardiologic examinations were performed in 136 patients with NS and CHD evaluated at our hospital from January 1986 to December 1998. Cardiac evaluation included chest x-ray film, electrocardiogram, 2-dimensional and color Doppler echocardiography, cardiac catheterization with angiocardiography, and cardiac surgery. RESULTS: The CHDs classically reported in NS, including pulmonary stenosis (39%), hypertrophic cardiomyopathy (10%), atrial septal defect (8%), and tetralogy of Fallot (4%), are well represented in our series; however, aortic coarctation (9%) and anomalies of the mitral valve (6%) may also occur in this syndrome. Moreover, AVC was diagnosed in 21 patients, representing 15% of all CHDs in our series. All patients showed a partial form of AVC, and an associated subaortic stenosis caused by additional anomalies of the mitral valve was detected in 5 of 21 (23.8%) of those patients. CONCLUSION: Left-sided lesions, such as aortic coarctation and anomalies of the mitral valve, are not rare in patients with NS and CHD. Moreover, in this syndrome AVC is quite frequent, the partial form is prevalent, and subaortic stenosis caused by additional anomalies of the mitral valve may be present. This information should be taken into consideration during the cardiologic evaluation of children with NS.     

Nasal dermoid sinus cyst: accidental coincidence or syndrome association?

BACKGROUND: Peters anomaly is a rare congenital glaucoma disease. The Peters' plus syndrome is characterized by distinct malformations. As some of the common craniofacial malformations like cleft lip and palate are frequent in Peters' plus syndrome, no nasal dermoid sinus cysts has been reported so far. Nasal dermoid sinus cysts usually present in isolation, although associations to other anomalies or syndromes are possible. The occurence of such an anomaly may be either accidental, or present a syndrome association. PATIENTS AND METHOD: One patient with an unilateral cleft lip and Peters' plus syndrome had undergone removal of nasal dermoid sinus cyst previously and was referred for management of recurrent disease. Complete surgical removal and plastic reconstruction was performed. RESULTS: Concerning the common (lateral) cleft lip nasal deformity with no midline nasal masses, there are reasons for the assumption that a coincidence of both anomalies might be accidental. Especially in Peters' plus syndrome no occurrence of nasal dermoids has thus far been documented. However, the embryological pathway of the frontonasal region differs from lip and palate development in time and location: So unique formation of both lesions seems inconsistent. Complete surgical removal and plastic reconstruction simultaneously or in a second step are recommended. CONCLUSION: As two cases of arhinia and Peters anomaly have been described in 1978, midline nasal masses might be a possible appearance of Peters' plus syndrome.