Diagnosis and Management of Suture-Related Concerns of the Infant Skull.

The cranial fontanelles and sutures have several benign variations, including most cases of "early" or "late" closure of the anterior fontanelle, bathrocephaly, overriding sutures, and benign metopic ridging. However, recognizing true craniosynostosis and referring the patient to a craniofacial specialist in a timely fashion are imperative, as minimally invasive options can be offered to most patients younger than 6 months of age. Gaining comfort with the physical examination of an infant with an abnormal head shape is best achieved through experience and pattern recognition and will frequently facilitate an accurate diagnosis without the need for ionizing radiation.

Accessory maxillary ostium repair using middle turbinate flap: a case series of 116 patients with chronic rhinosinusitis.

BACKGROUND: The ostiomeatal complex (OMC), comprising a small natural maxillary sinus ostium and narrow infundibulum, transmits the air diffusion into the antrum and mucociliary transport from the antrum, and is considered a key area in chronic rhinosinusitis (CRS). Thin membranous anterior and posterior fontanelle areas below the OMC can rupture forming a perforation, accessory maxillary ostium (AMO), that increases antral airflow changing the anatomy and function of the sinus. The purpose of this study was to report the first case series of CRS patients who had undergone repair of fontanelle defects aiming to reconstruct normal structures. METHODS: Between 2011 and 2017, a total of 157 perforations were diagnosed and repaired in 121 of 525 consecutive endoscopic sinus operations performed by the author. Defects were 3 mm to 4 mm in size (range, 1 mm to 7 mm). A flap cut from the undersurface of the middle turbinate was used. In total, 101 patients received concurrent balloon catheter dilation (BCD), while 15 patients had only an AMO repair. The mean endoscopic follow-up time was 16 weeks (range, 1 to 188 weeks). RESULTS: Overall, 101 perforations were closed, 21 open, and 17 partially open. A history of earlier endoscopic sinus surgery (ESS) or BCD surgery, presence of nasal polyposis or whether the repair was made without simultaneous BCD did not influence the closure rate. Postoperative febrile sinusitis occurred in 26 patients. CONCLUSION: Repair of AMO is in theory a beneficial and technically feasible office procedure with only transient side effects. Three out of 4 perforations were closed after repair.

Anterior Fontanelle Wormian Bone With Exomphalos Major and Dysmorphic Facial Features: A Previously Unseen Association?

Wormian bones are independent ossification centers found within cranial sutures or fontanelles. Though common in adult populations, their presence in children can be associated with several conditions such as osteogenesis imperfecta, hypothyroidism, pyknodysostosis, cleidocranial dysostosis, rickets, and acrocallosal syndrome. These conditions encompass a large range of clinical features but there has only been 1 other reported patient of exomphalos occurring concurrently with these ossicles. The authors present the case of a child with an anterior fontanellar Wormian bone, dysmorphic facial features, and exomphalos major born to unaffected parents. The pattern of features seen in this child did not closely match any condition commonly associated with Wormian bones. The only other reported case of both Wormian bone and exomphalos was in a child with acrocallosal syndrome who presented with more severe dysmorphic features than seen here. It is possible that this patient represents a previously unknown association between acrocallosal syndrome and exomphalos or a less severe variant of the condition. Conversely, this patient may possibly illustrate a newly discovered association between Wormian bones, facial dysmorphism, and midline abdominal defects.

An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?

We report on a 5-month-old female with large and widely spaced anterior and posterior fontanelles, aplasia cutis congenita, Tessier 3 oblique facial cleft, polydactyly, and syndactyly of toes. The polydactyly is unusual as an accessory finger is attached to the left fifth finger with mirrored, end-to-end fusion. We are naming this anomaly "polydactyly inversus." The infant appears to have a previously unreported syndrome of unknown cause.

A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a.

Malformations of the facial midline are a consistent feature among individuals with defects in primary cilia. Here, we provide a framework in which to consider how these primary cilia-dependent facial anomalies occur. We generated mice in which the intraflagellar transport protein Kif3a was deleted in cranial neural crest cells. The Kif3a phenotypes included isolated metopic craniosynostosis, delayed closure of the anterior fontanelles, and hydrocephalus, as well as midline facial anomalies including hypertelorism, cleft palate, and bifid nasal septum. Although all cranial neural crest cells had truncated primary cilia as a result of the conditional deletion, only those in the midline showed evidence of hyper-proliferation and ectopic Wnt responsiveness. Thus, cranial neural crest cells do not rely on primary cilia for their migration but once established in the facial prominences, midline cranial neural crest cells require Kif3a function in order to integrate and respond to Wnt signals from the surrounding epithelia.

Metopic frontal suture in a patient with severe dentofacial deformity undergoing bimaxillary surgery.

Six cranial fontanelles are present in newborns along with cranial sutures. Cranial sutures are a synarthrosis type of joints that occur in the skull after closure of fontanelles. Because of ossification up to 24 months, all fontanelles should be closed. Normal frontal bone consists of only frontonasal, frontozygomatic, frontomaxillaris, frontolacrimalis, and main coronal sutures. Metopic frontal suture occurs very rarely in adults. Some metopic frontal sutures might be related to genetic or general disorders or perhaps are related to an improper ossification. In some cases, it persists as a complete suture extending from the nasion to the anterior angle of the bregma, and this condition is called metopism, or metopic suture. In this article, we present a patient with metopic frontal suture diagnosed accidentally during preparation for bimaxillary orthognathic surgery.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

[A neonate without claviculae]. / Een neonaat met verkorte claviculae.

A 1-week-old girl, term born after a non-complicated parturition, presented with abnormal clavicles. At physical examination small and short clavicles were seen, as well as a widened anterior and posterior fontanelle. An X-ray of the thorax showed hypoplastic clavicles and an X-ray of the skull showed delayed ossification of the bones, hypoplasia of the maxilla and extra teeth. This led to the diagnosis 'cleidocranial dysplasia'.

Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence.

Pycnodysostosis is a rare autosomal recessive disorder whose gene responsible for this phenotype (CTSK), mapped to human chromosome 1q21, code for the enzyme cathepsin K, a lysosomal cysteine protease; with an estimated incidence of 1.7 per 1 million births. This clinical entity includes micromelic dwarfism, increased radiological bone density, dysplasia of the skull, acro-osteolysis, straightening of the mandibular angle and in some cases, dysplasia of the acromial end of the clavicle. Oral and maxillo-facial manifestations of this disease are very clear. Herein we reported a case of pycnodysostosis, showing short stature with widening of the sutures, unfused anterior and posterior fontanelles, crowding of teeth with dental caries and typical radiological features associated with ichthyosis vulgaris and palmoplantar keratoderma.

Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy.

Carbimazole (CMZ) and its active metabolite methimazole (MMI) are antithyroid medications, which can result in MMI/CMZ embryopathy in susceptible individuals. The incidence of birth defects related to MMI/CMZ embryopathy remains unclear as several epidemiologic studies failed to prove a correlation, despite positive case-control studies and numerous case reports. Malformations reported in exposed individuals and commonly recognized as MMI/CMZ embryopathy include cutis aplasia of the scalp, choanal atresia, esophageal atresia (EA), tracheo-esophageal fistula (TEF), persistent vitelline duct, athelia/hypothelia, and subtle facial dysmorphisms including sparse or arched eyebrows. Here, we report on individuals with early pregnancy exposure to MMI, with microtia and various other anomalies associated with MMI embryopathy, suggesting that microtia is also seen with increased frequency after prenatal MMI exposure. Additional unusual malformations among our patients include a previously unreported type of TEF with three separate esophageal pouches and a fistula connecting the middle pouch to the trachea in one child, and absence of the gall bladder in another. An enlarged anterior fontanel was seen in three patients, and clinodactyly of the fifth finger was noted in three. The similarities between our three patients with microtia after MMI exposure and the two previously reported with microtia after CMZ exposure support the concept of microtia being related to the MMI/CMZ exposure. Recognition of microtia as a manifestation of MMI/CMZ embryopathy will likely increase the number of diagnosed cases and thus affect ascertainment. We propose diagnostic criteria for MMI/CMZ embryopathy, including the presence of at least one major characteristic finding.

Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis.

We present the first report of the development of characteristic radiologic appearances of long bones during the first year of life in an infant with type V osteogenesis imperfecta (OI). We show the evolution of metaphyseal abnormalities from a rickets-like appearance to the classically described dense metaphyseal bands. These abnormalities suggest that the underlying defect in type V OI may involve a molecule common to both bone and cartilage that is involved in the regulation of growth plate development and metadiaphyseal ossification. Our findings provide new insights into skeletal development in type V OI and potentially yield useful clues to the identity of the defect underpinning the condition.

Two holes syndrome (THS) is present in more than half of the postnasal drip patients?

CONCLUSION: Posterior fontanelle defects were found in almost half of the patients with postnasal drip and in a negligible number in the cohort of healthy subjects. OBJECTIVES: The aim of this study was to compare the incidence of fontanelle defects in patients with postnasal drip and in healthy subjects. MATERIALS: A total of 723 outpatients suffering from postnasal drip as a leading symptom were examined during the last 10 years by means of nasal fiberendoscopy. The authors were searching for defects in the posterior fontanelle region and recirculating mucus. The control group consisted of 312 healthy volunteers with no history of postnasal drip. RESULTS: The defect in the posterior fontanelle was found in 414 of 723 patients with postnasal drip (57.3%). It was bilateral in 238 of 414 cases (57.5%). The defect in the anterior fontanelle was not found in this cohort at all. The recirculating mucus ring was clearly identified in 107 of 414 patients (25.8%). The defect in the posterior fontanelle was found in only 7 of 312 healthy volunteers (2.2%) (p < 0.01).

Absence of the anterior fontanelle due to a fontanellar bone.

Improved accessibility to supraregional centers in the United Kingdom has led to an increased referral of minor craniofacial anomalies. We have recognized a group of patients referred with absence of the anterior fontanelle and possible associated craniosynostosis. The aim of this study was to assess the group of patients in which the anterior fontanelle was entirely replaced by a single bone, examining associations, relationship to craniosynostosis, and prognostic implications.Eleven patients had fontanellar bones replacing the anterior fontanelle on computed tomographic imaging in the 3-year study period. Five were referred solely because of absence of the anterior fontanelle; and the remainder, because of concern of concomitant craniosynostosis. Five children had associated craniosynostosis (sagittal synostosis, 3; metopic synostosis, 1; and bicoronal synostosis, 1), 1 had acrocallosal syndrome, and 5 had no other craniofacial abnormalities. The patient group with craniosynostosis have been managed in line with the unit protocol and have good early postoperative results (mean postoperative follow-up, 9.4 mo). The 5 patients who had an anterior fontanellar bone as an isolated finding were observed and have developed normally with a mean follow-up of 2 years 1.4 months (range, 8 mo to 3 y 4 mo).Replacement of the anterior fontanelle with a fontanellar bone is an uncommon finding, often associated with craniosynostosis. Cases with craniosynostosis can be treated in line with unit protocols. Isolated anterior fontanellar bones can be managed conservatively without adverse impact on the child.

Correction of depressed forehead with BoneSource in cleidocranial dysplasia.

Cleidocranial dysplasia is a well-documented rare congenital disorder of the bone characterized by abnormalities of the skull, clavicle, and dentition. Despite numerous observations, there are still comparatively few reports regarding patients with cleidocranial dysplasia that focus on the impact of reconstruction of these defects on facial aesthetics. We report a 19-year-old woman with opened metopic and sagittal sutures and delayed closure of the anterior fontanelle. Through bicoronal incision and pericranial elevation, the defect was fully exposed. BoneSource was used to fill the cranial defect and was contoured to the desired cosmetic outcome. During a 24-month follow-up period, no absorption or recurrence was seen, and the patient was satisfied.

Normal and abnormal development of the fetal anterior fontanelle: a three-dimensional ultrasound study.

OBJECTIVES: To describe the methodology for correct visualization of the anterior fontanelle using three-dimensional ultrasound, to report its normal development during gestation, and to compare this with abnormal development. METHODS: This was a cross-sectional prospective evaluation of development of the anterior fontanelle in a series of 78 normal fetuses and 47 fetuses with congenital anomalies between 12 and 38 weeks of gestation. The anterior fontanelle was visualized in a mid-sagittal view of the fetal head, preferably with a pocket of fluid between the fetal head and the uterine wall, to ensure an optimal acoustic window. Visualization using volume contrast imaging mode in the coronal plane (VCI-C) was preferred to static acquisition of three-dimensional (3D) volumes, as the former allows real-time evaluation of the 3D image. Anteroposterior and laterolateral diameters, perimeter and area of the fontanelle were measured offline, with the diameters normalized for biparietal diameter and the perimeter and area normalized for head circumference. The variables were then regressed against gestational age. RESULTS: The best fitting regression model to describe the relationships between the fontanelle anteroposterior diameter and area and gestational age was a quadratic one, whereas a simple linear model fitted all remaining variables. All variables showed a positive or biphasic correlation with advancing gestational age, but a negative one after normalization for biparietal diameter or head circumference. Twenty of the 47 fetuses with abnormalities had abnormal (18 enlarged and two reduced) fontanelle dimensions, particularly those with chromosomal or non-chromosomal syndromes, primary or secondary cardiac overload, primary skeletal dysplasias or central nervous system malformations. Hydrops was not associated with abnormal fontanelle dimensions. CONCLUSIONS: We have described the methodology to obtain correct visualization of the fetal anterior fontanelle. The actual size of the fontanelle increases during gestation, while its size in relation to the volume of the fetal head diminishes, possibly due to the rapid development of the brain hemispheres and the consequent outward growth of the calvarial bones. The fact that enlarged fontanelle dimensions may be associated with certain fetal abnormalities may be employed advantageously in the differential diagnosis of some syndromic conditions in utero.