Abordagem cirúrgica do hiperteleorbitismo na displasia craniofrontonasal / Surgical approach of hypertelorbitism in craniofrontonasal dysplasia

RESUMO Objetivo: apresentar nossa experiência no tratamento cirúrgico do hiperteleorbitismo na displasia craniofrontonasal. Métodos: análise retrospectiva dos pacientes com displasia craniofrontonasal operados por orbital box osteotomy ou por bipartição facial entre os anos de 1997 e 2015. Informações sobre as intervenções cirúrgicas foram obtidas dos prontuários médicos, exames complementares, fotografias e entrevistas clínicas. Os resultados cirúrgicos foram classificados com base na necessidade de cirurgia adicional, e a recidiva orbital foi calculada. Resultados: sete pacientes do sexo feminino foram incluídas, três submetidas à orbital box osteotomy (42,86%) e quatro (57,14%) à bipartição facial. Houve uma recidiva orbital média de 3,71±3,73mm. A média global dos resultados cirúrgicos de acordo com a necessidade de novas cirurgias foi de 2,43±0,53. Conclusão: a abordagem cirúrgica do hiperteleorbitismo na displasia craniofrontonasal deve ser individualizada, respeitando, sempre que possível, a idade e as preferências dos pacientes, seus familiares e cirurgiões.

ABSTRACT Objective: to present our experience in the hypertelorbitism surgical treatment in craniofrontonasal dysplasia. Methods: retrospective analysis of craniofrontonasal dysplasia patients operated through orbital box osteotomy or facial bipartition between 1997 and 2015. Surgical data was obtained from medical records, complementary tests, photographs, and clinical interviews. Surgical results were classified based on the need for additional surgery and orbital relapse was calculated. Results: seven female patients were included, of whom three (42.86%) underwent orbital box osteotomy and four (57.14%) underwent facial bipartition. There was orbital relapse in average of 3.71±3,73mm. Surgical result according to the need for further surgery was 2.43±0.53. Conclusion: surgical approach to hypertelorbitism in craniofrontonasal dysplasia should be individualized, respecting the age at surgery and preferences of patients, parents, and surgeons.

Managing obstructive sleep apnoea in children: the role of craniofacial morphology

Obstructive sleep apnoea syndrome is a type of sleep-disordered breathing that affects 1 to 5% of all children. Pharyngeal and palatine tonsil hypertrophy is the main predisposing factor. Various abnormalities are predisposing factors for obstructive sleep apnoea, such as decreased mandibular and maxillary lengths, skeletal retrusion, increased lower facial height and, consequently, increased total anterior facial height, a larger cranio-cervical angle, small posterior airway space and an inferiorly positioned hyoid bone. The diagnosis is based on the clinical history, a physical examination and tests confirming the presence and severity of upper airway obstruction. The gold standard test for diagnosis is overnight polysomnography. Attention must be paid to identify the craniofacial characteristics. When necessary, children should be referred to orthodontists and/or sleep medicine specialists for adequate treatment in addition to undergoing an adenotonsillectomy.

Malformaciones craneofaciales y obstrucción de vía aérea superior: ¿qué y cómo corregir? / Craniofacial malformations and upper airway obstruction: what and how to correct?

Objetivos: revisión de las principales causas de obstrucción de la vía aérea superior relacionadas a malformaciones del territorio craneofacial. Método: Revisión de la literatura, según nivel obstructivo; de origen nasofaríngeo, orofaríngeo, glóticas o subglóticas y según la condición desindrómica o no. Resultados: Se consideran las principales características clínicas de las distintas patologías, especialmente las relacionadas con el compromiso de la vía aérea superior y el procedimiento terapéutico en cada una de ellas.Se destaca dentro del manejo quirúrgico descrito la utilidad de la distracción osteogénica, sus indicaciones, la descripción de la técnica y sus resultados. Conclusiones: La obstrucción de la vía aérea respiratoria, resulta de una condición morfológica y/o funcional presente en distintas malformaciones craneofaciales, tanto en el contexto de Síndromes como en forma aislada. Su adecuado diagnóstico y posterior manejo resulta fundamental en la sobrevida de los pacientes que presentan esta compleja condición.

Objectives: review article of the main causes obstruction of the upper airway related to craniofacial malformations. Method: Literature review, according the obstructive level; nasopharyngeal origin, oropharyngeal, glottal or subglottic and depending on the condition of syndromic or not. Results: Considered the main clinical features of various diseases, especially those related to the engagement of the upper airway and therapeutic procedure in each. The usefulness of distraction osteogenesis indications, the description of the technique and its results emerged within the described surgical management. Conclusions: Obstruction of the respiratory airway, resulting from a morphological condition and / or functional present in different craniofacial malformations, both in the context of Syndromes and isolation. Proper diagnosis and subsequent management is essential to the survival of patients with this complex condition.

Cranioplastias: estratégias cirúrgicas de reconstrução / Cranioplasties: surgical reconstruction strategies

INTRODUÇÃO: As reconstruções dos ossos do crânio podem ser especialmente desafiadoras. Existem três indicações para se realizar uma cranioplastia: readquirir proteção contra traumas, recuperação do contorno craniano e tratamento da síndrome de trefinado. Este trabalho tem como objetivo mostrar a experiência do autor com cranioplastias e discutir as estratégias cirúrgicas de reconstrução. MÉTODOS: Foi feita uma análise retrospectiva de 16 casos consecutivos de reconstrução craniana operados na saúde pública (INTO - RJ) e na prática privada em 2013 e 2014. RESULTADOS: De janeiro de 2013 a janeiro de 2014, 16 pacientes foram operados. Treze eram homens. A idade foi de 10 a 72 anos. Doze pacientes tiveram sua reconstrução feita com enxerto de parietal, 2 com prótese customizada, 1 com redução e fixação da fratura, e 1 com reconstrução de partes moles. A maioria dos defeitos estavam localizados na região fronto-orbital. As próteses customizadas foram usadas em defeitos de 192 e 22,5 cm2. Tivemos complicações em 5 pacientes: lesão de seio sagital, irregularidade no contorno, seroma, não integração do enxerto, vazamento de líquor e extrusão da prótese. Todas as complicações foram resolvidas sem prejuízo à reconstrução. O seguimento variou de 10 a 22 meses. Todos mostraram-se satisfeitos com as reconstruções e houve melhora de funções neurológicas. CONCLUSÃO: A cranioplastia é uma cirurgia primariamente reparadora para recuperar a função protetora do crânio e tratar a síndrome do trefinado. O enxerto autólogo de parietal segue sendo a primeira escolha. A prótese está indicada quando há um grande defeito ou quando a captação do enxerto parietal não é possível.

INTRODUCTION: Reconstruction of the skull bones can prove challenging. There are three indications for carrying out cranioplasty: (1) recovery of protection against trauma, (2) recovery of the cranial contour, and (3) treatment of the syndrome of the trephined. The objective of this report is to present the experience of the author with cranioplasties, and discuss surgical reconstruction strategies. METHODS: This report presents a retrospective analysis of 16 consecutive cases of cranial reconstruction, which were operated in 2013 and 2014 in the public health service (INTO - RJ) and in the private practice. RESULTS: From January 2013 to January 2014, 16 patients underwent surgery. Thirteen were men. Their age ranged from 10 to 72 years. Twelve patients underwent reconstruction with a parietal graft, two with custom prosthesis, one with fracture reduction and fixation, and one with reconstruction of soft parts . Most of the defects were located in the fronto-orbital region. The customized prostheses were used in defects of 192 cm2 and 22.5 cm2. Complications occurred in five patients: lesion of the sagittal sinus, irregularity in the contour, seroma, failure in graft integration, leakage of cerebrospinal fluid, and extrusion of the prosthesis. All the complications were resolved without impairment to the reconstruction. The follow-up time ranged from 10 to 22 months. All the patients were pleased with the reconstructions, and improvement of the neurological functions was reported. CONCLUSION: Cranioplasty is a primarily restorative surgical procedure that is used to restore the protective function of the skull and to treat the syndrome of the trephined. The autologous parietal graft is the surgeons' first choice. The prosthesis is indicated when there is a major defect or when the harvesting of a parietal graft is not possible.

Factores morfogenéticos del síndrome de apneas obstructivas del sueño en niños / Morphogenetic factors of obstructive sleep apnea syndrome in children / Fatores morfogenéticos da síndrome de apnéia obstrutiva do sonoem crianças

En la expresión del síndrome de apneas obstructivas del sueño están involucrados múltiples genes que interaccionan a su vez con múltiples factores ambientales. Los genes candidatos para este síndrome son diferentes según los diversos grupos étnicos e incluyen fundamentalmente genes que participan en la distribución de la grasa corporal, en la anatomía cráneo-facial y de la vía aérea y en el control ventilatorio. Describimos los factores genéticos que influyen en la predisposición al síndrome de apneas obstructivas del sueño en niños.

Multiple genes that interact with multiple environmental factors are involved in the expression of obstructive sleep apnea syndrome. Candidate genes for this syndrome vary according to ethnicity and major genes include those related to the distribution of body fat, the craniofacial´s andairway´s anatomy and the ventilatory control. We describe genetic factors that influence susceptibility to obstructive sleep apnea syndrome in children.

Vários genes que interagem com múltiplos fatores ambientais estão envolvidos na expressão da síndrome de apnéia obstrutiva do sono.Os genes candidatos para esta síndrome são diferentes de acordo com os diferentes grupos étnicos e incluem, principalmente, os genes envolvidos na distribuição de gordura corporal, a anatomia cranio faciale das vias aéreas e controle ventilatório.Nós descrevemos os fatores genéticos que influenciam a susceptibilidade a síndrome da apnéia do sono em crianças.

Craniofacial abnormalities among patients with Edwards Syndrome / Anormalidades craniofaciales entre pacientes con sindrome de Edwards / Anormalidades craniofaciais em pacientes com Sindrome de Edwards

OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. .

OBJETIVO Verificar la frecuencia y los tipos de alteraciones craniofaciales observadas en pacientes con trisomía del cromosoma 18 o síndrome de Edwards (SE). MÉTODOS: Estudio descriptivo y retrospectivo de una serie de casos que incluyó a todos los pacientes diagnosticados con SE en un Servicio de Genética Clínica de un hospital de referencia en el sur de Brasil, en el periodo de 1975 a 2008. Los resultados del análisis cariotípico, juntamente con datos clínicos, fueron recogidos a partir de los prontuarios médicos. RESULTADOS: La muestra fue compuesta por 50 pacientes. De estos, el 66% eran del sexo femenino. La mediana de edad en el momento de la primera evaluación fue de 14 días. Respecto a los cariotipos, la trisomía libre del cromosoma 18 fue la alteración principal (90%). Se observó mosaicismo en el 10%. Las principales anormalidades craniofaciales observadas consistieron en microrretrognatia (76%), anormalidades de hélix de las orejas/orejas displásicas (70%), occipital prominente (52%), orejas retrovertidas (46%) y bajo implantadas (44%) y hendiduras palpebrales/blefarofimosis (46%). Otras anormalidades poco comunes, pero relevantes, fueron microtia (18%), hendiduras orofaciales (12%), apéndices preauriculares (10%), parálisis facial (4%), encefalocele (4%), ausencia de conducto auditivo externo (2%) y asimetría facial (2%). Uno de los pacientes presentaba sospecha inicial de espectro óculo-auricular-vertebral (EOAV) o síndrome de Goldenhar. CONCLUSIONES A pesar de la descripción en la literatura de cuadro clínico usualmente característico para la SE, las alteraciones craniofaciales pueden ser variables en esos pacientes. Llaman la atención los hallazgos pertenecientes al EOAV, siendo que la asociación de SE con esa condición se observó en la literatura en un relato de caso. .

OBJETIVO Verificar a frequência e os tipos de alterações craniofaciais observadas em pacientes com trissomia do cromossomo 18 ou síndrome de Edwards (SE). MÉTODOS: Estudo descritivo e retrospectivo de uma série de casos que incluiu todos os pacientes diagnosticados com SE em um Serviço de Genética Clínica de um hospital de referência do sul do país, no período de 1975 a 2008. Os resultados da análise cariotípica, juntamente com dados clínicos, foram coletados a partir dos prontuários médicos. RESULTADOS A amostra foi composta de 50 pacientes. Destes, 66% eram do sexo feminino. A mediana da idade no momento da primeira avaliação foi de 14 dias. Quanto aos cariótipos, a trissomia livre do cromossomo 18 foi a alteração principal (90%). Observou-se mosaicismo em 10%. As principais anormalidades craniofaciais observadas consistiram de microrretrognatia (76%), anormalidades de hélix das orelhas/orelhas displásicas (70%), occipital proeminente (52%), orelhas retrovertidas (46%) e baixo implantadas (44%) e fendas palpebrais pequenas/blefarofimose (46%). Outras anormalidades incomuns, mas relevantes, foram microtia (18%), fendas orofaciais (12%), apêndices pré-auriculares (10%), paralisia facial (4%), encefalocele (4%), ausência de conduto auditivo externo (2%) e assimetria de face (2%). Um dos pacientes apresentava suspeita inicial de espectro óculo-aurículo-vertebral (EOAV) ou síndrome de Goldenhar. CONCLUSÕES Apesar da descrição na literatura de quadro clínico usualmente característico para a SE, as alterações craniofaciais podem ser variáveis nesses pacientes. Chamam atenção os achados pertencentes ao EOAV, sendo que a associação de SE com essa condição foi observada na literatura em um relato de caso. .

An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report

A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. Examinations of bone and metabolism revealed osteoporosis and craniofacial abnormalities. The mutation (c.6443T>G) of the NOTCH2 gene was found. The patient was diagnosed with HCS and DM. There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation.

Vía aérea difícil / Difficult airway

Difficult airway is a life-threatening situation which compromises the permeability of the upper airway and thus adequate ventilation and oxygenation. Multiple factors, acute and chronic such as: infectious, neoplastic and trauma have been associated with critical airway. Morbidity and mortality related to a difficult airway management remains as a significant problem in children, so is essential for the pediatric health team to be trained to recognize and anticipate situations that in clinical practice might determine a critical airway. The aim of this review is to provide concepts and guidance to assess patients with potentially difficult airway.

Una vía aérea difícil condiciona una situación con riesgo vital, ya que pone en peligro la permeabilidad de la vía aérea superior y con esto la capacidad de mantener una adecuada ventilación y oxigenación. Múltiples factores, tanto agudos como crónicos, entre ellos factores anatómicos propios del niño/a, complicaciones infecciosas, neoplásicas y/o traumáticas se han asociado con una vía aérea crítica. La morbilidad y mortalidad asociada al manejo inadecuado de esta condición continua siendo un problema significativo en la edad pediátrica; siendo fundamental que el equipo de salud se encuentre entrenado en reconocer y anticipar situaciones que en la práctica clínica podrían asociarse con una vía aérea difícil o crítica. El objetivo de la presente revisión es otorgar conceptos y una orientación en el enfrentamiento de los pacientes con una vía aérea potencialmente difícil.

Guía para la evaluación y preparación preoperatoria de los pacientes neuroquirúrgicos de coordinación / Guidelines for the preoperative evaluation and preparation of coordination neurosurgical patients

En neurocirugía, la valoración pre anestésica habitual debe complementarse de acuerdo a la patología quirúrgica, debido a que algunos casos se asocian con problemas anestésicos específicos como dificultad de intubación, enfermedad cardíaca y alteraciones endócrinas. La presente revisión expone dichos casos organizándolos de acuerdo al siguiente esquema: lesiones de la región selar (tumores de hipófisis y cráneofaringioma), deformidades cráneofaciales (cráneosinostosis) y disrafias espinales. Dicho esquema no incluye las patologías neuroquirúrgicas que no requieren per se de valoración pre anestésica diferente al común de los pacientes. Para cada patología se presenta el esquema diagnóstico de las alteraciones anatómicas y fisiológicas que podrán originar problemas anestésicos, así como su enfoque terapéutico perioperatorio de modo de facilitar la tarea del anestesiólogo actuante.

A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up

In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed.

Objetivando contribuir com o delineamento clínico de defeitos de linha média facial com hipertelorismo (DLMFH) e com o diagnóstico etiológico das formas isoladas, foram avaliados 31 indivíduos com DLMFH sem condições clínicas definidas. O Grupo A constituiu-se de pacientes examinados pessoalmente e o Grupo B, inicialmente, por outro geneticista. Entre os 14 pacientes do Grupo A, detectou-se 7 novos quadros de anomalias múltiplas (AM). No Grupo B, 5 dos 17 pacientes exibiram um quadro clínico único e peculiar. Nos casos de DLMFH isolados, detectou-se associação com anomalias de ossos de crânio e face (13/14), otorrinolaringológicas (11/16), de sistema nervoso central (9/16), oculares (6/7), e audiológicas (3/16); houve antecedentes gestacionais relevantes em 1/3. Existem evidências de envolvimento de fatores ambientais em parte dos casos de formas isoladas de DLMFH, devendo-se atentar para a possibilidade de um quadro distinto de AM. Todas as investigações realizadas são úteis para avaliação e seguimento clínico.

Craniodiaphyseal dysplasia: an unusual cause of recurrent dacryocystitis.

We describe a rare syndrome characterized by severe craniofacial hyperostosis, sclerosis, obliteration of paranasal sinuses and foramina of skull base, in a 10-year-old female child who presented with abnormal facial features and recurrent dacryocystitis due to narrowing of nasolacrimal duct.

Bird-headed dwarf of Seckel.

Seckel syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth resulting in low birth weight. Growth delays continue after birth resulting in short stature (dwarfism). This syndrome is associated with an abnormally small head, varying degrees of mental retardation and unusual "beak like" protrusion of nose. Other facial features may include abnormally large eyes, a narrow face, malformed ears and an unusually small jaw. This syndrome has an autosomal recessive pattern of inheritance. A case of the Seckel syndrome is presented.

Asphyxiating thoracic dystrophy with facial dysmorphism.

Here it is reported a male newborn baby with features of asphyxiating thoracic dystrophy (ATD) with facial dysmorphism. The disproportionate rhizomelic short stature, narrow thorax, long fibulae, wide metaphysis and trident acetabule are consistent with diagnosis of ATD. In addition the baby had facial dysmorphism and broad thumbs and great toes similar to Oto-palato-digital syndrome type II (OPD II). The association of these features with ATD is not reported till date.

Estudos de neuroimagem quantitativa em individuos com anomalias craniofaciais / Quantitative neuroimaging studies in individuals with craniofacial anomalies

Foram estudados 31 indivíduos com anomalias crânio faciais utilizando protocolo previamente definido, composto por avaliação clínica, citogenética, avaliação morfológica (ressonância magnética [RM] com reformatação multiplanar [MPR]) e investigação funcional (Eletroencefalografia [EEG] e/ou Tomografia por emissão de fóton único [SPECT]). Destes, 17 apresentavam defeitos de linha média facial com hipertelorismo (DLMFH), 10, síndrome de Saethre-Chotzen (SCS) e 4, síndrome blefaroqueilodôntica (BCD). Nos indivíduos com DLMFH foi observado, na avaliação neurológica, anormalidades na forma craniana (17/17), hipotonia (16/17), distúrbios de coordenação motora (10/17) e alteração no equilíbrio (6/17). A RM evidenciou anormalidades em todos os casos que incluíram alterações comissurais (16/17), malformações de desenvolvimento cortical (10/17), alterações no fechamento de tubo de neural (7/17), e anormalidades de fossa posterior (6/17). O EEG mostrou distúrbio epileptiforme em 6/17 e anormalidades de fundo em 5/17 pacientes. O SPECT evidenciou hipoperfusão em cerebelo (8/11) e ponte (8/11), o que explicaria as alterações observadas no exame neurológico. Na SCS a avaliação neurológica mostrou braquicefalia (10/10), hipotonia muscular (6/10) hipomimia (3/10) e descoordenação motora (2/10). A avaliação neurorradiológica (RM com MPR) mostrou alterações no crânio (10/10), anomalias comissurais (6/10), perturbações de fechamento de tubo de neural (4/10), malformações de desenvolvimento cortical (4/10), alterações na fossa posterior (3/10). Na BCD, foi observada...

31 individuals were studied with different cranium-facial anomalies using a previously defined protocol, composed by clinical and cytogenetics evaluation, morphological evaluation (magnetic resonance image [MRI] with multiplanar reformatting [MPR]) and of functional investigation (Electroencephalogram [EEG] and/or single-photon emission computed tomographic imaging [SPECT]). Seventeen presented Midline facial defects with ocular hypertelorism (MFDH), 10 with Saethre-Chotzen Syndrome (SCS) and 4 with Blefarocheilodontic Syndrome (BCD). In MFDH individuals, it was observed in neurological evaluation, abnormalities in cranial shape (17/17), motor coordination (10/17) and equilibrium (6/17). MRI showed central nervous system (CNS) abnormalities in all cases, which included commissural alterations (16/17), malformations of cortical development (10/17), disturbances of neural tube closure (7/17) and posterior fossa abnormalities (6/17). EEGs showed epileptiform abnormalities in 6/17 and background abnormalities in 5/17 patients. The SPECT evidenced cerebellar (8/11) and pons (8/11) hipoperfusion, what would explain the alterations observed in the neurological evaluation. In SCS cases, neurological evaluation showed brachycephaly (10/10), hypotonia (6/10) frontal hypomimia (3/10) and motor incoordination (2/10). Neuroradiologic exams (MRI with MPR) showed skull alterations (10/10), comissural anomalies (6/10), disturbances of neural tube closure (4/10), malformations of cortical development (4/10), alterations of posterior fossa (3/10). In BCD, passive hypotonia was detected in all cases, at neurological evaluation. MRI showed thin posterior hippocampal portion in one case and vascular and gyri malformatios in frontal lobe in another case. The SPECT...

Johanson--blizzard syndrome.

Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. cafe-au-lait spots.

Seckel syndrome with polyarteritis nodosa.

Seckel syndrome is a rare genetic disorder with a typical "bird-headed" appearance. It could affect many organ systems but renal involvement is uncommon. Polyarteritis nodosa is systemic vasculitic disorder which also involves kidneys. We report a case of Seckel syndrome in a 9 year-old boy with renal involvement due to polyarteritis nodosa. According to the literature, this is the first report of polyarteritis nodosa in Seckel syndrome.