Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis.

INTRODUCTION: Robinow syndrome is a rare entity with a characteristic appearance, such as hypertelorism, short stature, mesomelic shortening of the limbs, hypoplastic genitalia, and rib as well as vertebral anomalies. We had treated a patient with Robinow syndrome who developed hydrocephalus and craniosynostosis which is not usually associated. CASE PRESENTATION: The ventricle enlargement was detected during pregnancy in a female infant. She did not develop hydrocephalus just after birth. Her facial appearance was fetus-like, so the pediatricians had suspected Robinow syndrome. During follow-up examinations, a rapidly enlarging head circumference was detected when she was 3 months old. Her conscious level was not disturbed, but she had a tight fontanel and sunset phenomenon was recognized. Hydrocephalus was diagnosed by radiographic imaging so that she underwent ventriculo-peritoneal shunting (VPS). Her irregular head enlargement seized. Six months after surgery, her parents noticed the brachycephalic shape of her head. A computed tomography (CT) and magnetic resonance (MR) scan were conducted and showed that her bilateral coronal, bilateral lambdoid, and the sagittal suture were fused in addition with a tonsillar herniation. Since the sutures were not remaining, we diagnosed that this was a primary pan synostosis rather than secondary craniosynostosis due to VPS. Posterior cranial vault distraction with foramen magnum decompression (FMD) was conducted. The distractor was extended by 1 mm per day up to 30 mm. After a consolidation period of 2 months, the distractors were removed. Through this intervention, a 15.4% increase (+196cc) of the intracranial space with an improvement of the chronic tonsillar herniation was achieved. CONCLUSION: To confirm the diagnosis of Robinow syndrome, a genetic test was conducted. The analysis showed ROR2 Exon3 (c233 c>t p. Thr 78 Met), which is found in the recessive type of Robinow syndrome. We report this patient as, to our best knowledge, the first case documented case of Robinow disease presenting with hydrocephalus and craniosynostosis. Posterior cranial vault distraction with FMD is a useful way to treat this condition.

Quantitative Analysis of Change in Intracranial Volume After Posterior Cranial Vault Distraction and Frontal Orbital Advancement/Remodeling.

INTRODUCTION: Patients with craniosynostosis with shortened occipitofrontal diameter are mainly treated with posterior cranial vault distraction osteogenesis (PVDO) in our institution. If further intracranial volume (ICV) expansion is needed, additional treatment with frontal orbital advancement (FOA) is done. On the contrary, frontal orbital remodeling (FOR) is done for better aesthetic results. In this study, post-treatment ICV changes in patients with craniosynostosis treated with these methods have been investigated. METHODS: Patients who underwent FOA or FOR in addition to PVDO at Juntendo University Hospital between 2011 and 2017 were reviewed for patient characteristics and pre/postoperative ICV measurements using 3-dimensional computed tomography scans. RESULTS: Nine patients aged from 5 months to 6 years 8 months at the time of PVDO were included. For PVDO, the ICV change was 113 to 328 mL, and the enlargement ratio of ICV was 109% to 152%. Two patients were further operated with FOA while the remaining 7 with FOR. With FOA, ICV change was 73 to 138 mL, while enlargement ratio of ICV was 107% to 114%. With FOR, ICV change was 3 to 45 mL (mean 20 mL), while enlargement ratio of ICV was 100% to 103%. CONCLUSION: The PVDO is our first line of treatment for ICV expansion and posterior cranial fossa decompression in patients with severe craniosynostosis. The FOA is performed if extra ICV increase is necessary. This approach seems to enable larger ICV expansions compared with other conventional methods. The FOR should be reserved for patients in whom adequate ICV levels are achieved with PVDO yet additional frontal reshaping is necessary.

Quantitative Analysis of Change in Intracranial Volume After Posterior Cranial Vault Distraction.

Posterior cranial vault distraction is considered to be more effective for increasing intracranial volume than fronto-orbital advancement or anterior cranial vault expansion, but the changes in intracranial volumes after posterior cranial vault distraction remain unclear. The changes in intracranial volume were investigated in patients of premature craniosynostosis treated by this technique. Seven patients, 3 boys and 4 girls aged from 5 months to 3 years 3 months (mean 23 months) at operation, with craniosynostosis underwent posterior cranial vault distraction at Juntendo University Hospital from 2011 to 2014. Patient characteristics, length of distraction, and pre- and postoperative computed tomography findings were reviewed. Total intracranial volume, including the supratentorial space and posterior cranial fossa, was measured using the workstation functions on three-dimensional computed tomography scans. Posterior distraction was performed without severe complications except in 2 patients requiring additional surgeries. The distraction length was 22.3 to 39 mm (mean 31 mm), the intracranial volume change was 144 to 281 mL (mean 192 mL), and the enlargement ratio of intracranial volume was 113% to 134% (mean 121%). The present quantitative analysis of intracranial volume change after posterior distraction showed greater increases in intracranial volume compared with previous reports. Furthermore, intracranial volumes in our patients became nearly normal and were maintained for the follow-up period (maximum 13 months). Posterior cranial vault distraction is very effective to increase cranial volume, so may be the first choice of treatment in patients of craniosynostosis.

Possibility of Using Standard Plates for Orbital Fracture.

OBJECTIVES: Absorbable plates are sometimes grafted for treating orbital fractures. These plates cannot be readily processed to fit the shape of the fracture site, particularly when the fracture encompasses a broad area from the medial toward the inferior wall. Preparing the plates in a standard shape beforehand will be useful. Thus, in this study, the authors measured the orbital wall distance in healthy orbits to determine the mean orbital size with the ultimate goal of developing and clinically applying a standard plate for orbital fracture. METHODS: Measurements were performed for the left eye orbit on computed tomography images using a three-dimensional medical image processing workstation. The authors measured the orbital wall distances and angle of healthy orbits in 40 males and 40 females to determine the mean size of the orbit. RESULTS: In healthy orbits, no significant difference was noticeable in the angle between medial wall and inferior wall between males and females. The medial, inferior, and medial + inferior wall distances were markedly longer in males than in females (P < 0.05). DISCUSSIONS: The orbital shapes had the same pattern in males and females. The standard plate would be adaptable to all cases if it were produced with the medial wall + inferior wall distance greater than the maximum value in males and trimmed to fit the orbit form of the patient. CONCLUSIONS: The results would be the basis of creating a standard plate and using it after appropriate adjustments.

Use of a novel orbicularis oculi muscle overlap method for correction of tear-trough deformity.

BACKGROUND: Although the fat-pad-sliding method reported by Loeb and the "arcus marginalis release with preservation of orbital fat" method reported by Hamra are useful techniques for correcting tear trough deformity in the Asian population, including Japanese patients, occasional cases of tear-trough deformity have persisted even after surgery. To solve this problem, the authors developed a novel orbicularis oculi muscle overlap method, which has enabled them to obtain good results. METHODS: The orbicularis oculi muscle overlap method was performed for 10 patients (9 women and 1 man) with prominent tear-trough deformity. The average of these patients was 52 years (range, 34-72 years). The origin of the orbicularis oculi muscle was elevated at its adherence to the maxillary bone, and the innermost portion of the origin of the orbicularis oculi muscle was excised by a width of 6 to 7 mm to reduce the muscle tension. This muscle flap was overlapped relative to the orbital fat, which was repositioned over the orbital rim and sutured in place. RESULTS: Tear-trough deformity improved in all cases, and the patients were highly satisfied with their flat lower eyelids. CONCLUSION: The orbicularis oculi muscle overlap method is effective for thin eyelids with prominent tear-trough deformity. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Observing vessel stumps axially: A novel exoscope for end-to-end microvascular anastomosis.

Although many free tissue transfers have been performed, free flap loss can still occur because of vascular compromise. To facilitate microsurgery, we invented the axial-view microscope (aMS), a new type of microscope that can axially visualize vessel stumps. The aMS was combined with an optical microscope, the so-called bird's-eye-view microscope (bMS). Using our aMS, we observed the cross-sections of the following 12 arteries during vascular anastomosis: three deep inferior epigastric arteries, three suprathyroid arteries, two thoracodorsal arteries, two jejunal arteries, one lateral circumflex femoral artery, and one facial artery. For each artery, we measured the vessel height-to-width (H-W) ratio to determine the roundness of the vessel stump. Based on the aMS and bMS, the average H-W ratios were 0.877 ± 0.187 and 0.445 ± 0.172, respectively. The H-W ratio obtained using the aMS was significantly higher than that of the bMS (P < 0.001). Providing the surgeon with a bidirectional view of the vessel stump reduced blind spots at the anastomotic site. In this report, we describe our new microscope and associated clinical cases.

Cylinder syringe suction: a simple and efficient technique for the evacuation of subcutaneous hematoma.

BACKGROUND: Subcutaneous hematoma is commonly caused by trauma or surgery. Proper treatment of the condition is needed to avoid severe complications. The present paper introduces a simple technique of hematoma evacuation, called cylinder syringe suction (CSS). Experiments were also performed to determine the detailed mechanism underlying its effectiveness. METHODS: The CSS procedure was performed as follows. A cylindrical plastic cylinder syringe was used. Either a few stitches were removed or a very small incision was made on the site of the hematoma. The edge of the syringe was compressed to the skin, which was covered by a thin hydrocolloid dressing. Vacuum aspiration was enforced at the site of the wound or incision, and the hematoma was gradually aspirated.For the experiment, house rabbits were used. Hematoma evacuation was performed in 4 different ways, including needle aspiration alone (group 1), needle puncture followed by CSS (group 2), and creation of a small wound (5 mm) followed by needle aspiration (group 3) or CSS (group 4). The amount of evacuated hematoma and the suction pressure created by each of the 4 methods were compared. RESULTS: Group 4 showed the highest suction pressure and the greatest evacuated amount of hematoma. High suction pressure was also obtained in group 1; however, the amount of evacuated hematoma was small as the other 2 groups. CONCLUSION: The CSS technique becomes effective mainly by creating high suction pressure, and the opening of a small wound enables the viscous coagula to pass through the skin.

A Case of Fibula Regeneration after Below-the-knee Amputation in an Adult.

We report the case of an adult with fibula regeneration after below-the-knee amputation. Fibula regeneration conventionally occurs at the donor site of children after autogenous fibula transplantation when the periosteum is preserved. However, the patient was an adult, and the regenerated fibula was 7-cm long and grew directly from the stump. A 47-year-old man was referred to the plastic surgery department owing to stump pain. He had an open comminuted fracture of the right fibula and tibia due to a traffic accident when he was 44 years old and underwent below-the-knee amputation and negative pressure wound therapy for skin defects. The patient recovered and was able to walk using a prosthetic limb. Upon radiography, the fibula was found to have regenerated 7 cm directly from the stump. Pathological examination revealed that the regenerated fibula contained normal bone tissue and neurovascular bundles in the cortex. The periosteum, mechanical stimuli with limb proteases, and negative pressure wound therapy were suspected to have accelerated bone regeneration. He had no inhibitory factors for bone regeneration, including diabetes mellitus, peripheral arterial disease, or active smoking status. After the resection of the regenerated fibula, the patient was ambulatory without further bone regeneration or pain. This case report suggests that bone regeneration may occur even in adults. The surgeon should not leave any part of the periosteum behind in patients undergoing amputation. In adult amputees complaining of stump pain, the possibility of bone regeneration may be considered.

Expression of transforming growth factor-ß1, -ß2, and -ß3 in plagiocephalic fused and patent coronal suture.

BACKGROUND: Craniosynostosis is a relatively rare disease. Recently, several studies have investigated the etiology of craniosynostosis using animal models; however, the etiology remains unknown. In this study, we examined transforming growth factor (TGF) ßs immunostaining from coronal sutures in patients with plagiocephaly. MATERIALS: The examined materials were obtained from 3 patients who had undergone surgery for plagiocephaly. The sections were obtained from the normal patent side and the abnormal fused side of the coronal suture. The subjects included 2 girls and 1 boy with ages ranging from 1 to 4 years. Osteoblasts and connective tissue were observed with hematoxylin and eosin stain. Immunohistochemistry of the TGF-ß isoforms was performed to investigate the difference between the patent and fused sutures. RESULTS: No connective tissue was observed in the fused suture. The osteoblasts in the patent suture were activated, whereas the osteoblasts in the fused suture were inactivated. The osteoblasts were positive for TGF-ß1, -ß2, and -ß3. The periosteum tended to be positive for TGF-ß2 and negative for TGF-ß1 and -ß3. There was no distinct difference between the patent and fused sutures in this study. DISCUSSION: In this study, all sutures had fused completely, and therefore, we may have missed the period when there are differences in protein manifestation. The modulation of the growth factor profile at the suture site may have a potential therapeutic value.

The medial plantar flap vascularized by the reverse flow lateral plantar artery: a novel variation through the case of aggressive digital papillary adenocarcinoma of the sole.

Aggressive digital papillary adenocarcinoma (ADPA) is a rare neoplasm of eccrine sweat gland origin that typically presents as a mass on the distal extremities. It is associated with high rates of local recurrence and distal metastasis. Presented here is the case of a 61-year-old male who developed ADPA on his distal sole just above the head of the first metatarsal bone. Wide excision of the tumor involving a 3-cm skin margin from previous surgical scar of biopsy was performed, and sentinel lymph node biopsies were taken from the popliteal fossa and inguinal regions. During this wide excision surgery, the pedicle for the reverse medial plantar flap had to be removed along with the tumor. Reconstructive surgery was performed with a medial plantar flap that was vascularized with a lateral plantar artery in a reverse fashion. This flap successfully covered the defect and the patient can walk without any problems. However, the pedicle crossed the donor site somewhat tightly and the flap became congested for a while. Therefore, it is important to ensure careful handling of the donor site when performing this procedure.

Lactose Stabilization Prolongs In Vivo Retention of Cross-linked Fish Collagen Subcutaneous Grafts in Nude Mice.

Bovine-derived collagen gel has been used in the medical field as an injection formulation, but there are concerns about cross-infection such as bovine spongiform encephalopathy. In this study, we attempted to use fish as a safe alternative to bovine collagen. Objective: Fish collagen has not been used in clinical settings, so we examined its potential by comparing its properties with those of bovine-derived collagen. Methods: Collagen was extracted from the ventral skin of flatfish. It was cross-linked with 1%, 3%, or 5% of 1-ethyl-3-(3-dimethylaminopropyl) carbodiimide hydrochloride (EDC) and treated with 1%, 5%, or 10% of lactose. Hydroxyproline contents and Young's modulus (elasticity) were measured. In addition, these were injected under the back of BALB/c nude mice and the amount of hydroxyproline was observed. Histological examination of the samples was also conducted. Results: The amount of hydroxyproline in fish collagen was 3.3 ± 0.3 µg/mg. The 3% collagen gel treated with 5% EDC and 5% lactose had the highest Young's modulus and was closest to the bovine-derived collagen injection formulation. When injected into mice, it was retained in vivo for about 90 days. Conclusions: Fish collagen has a low denaturation temperature and is unstable and easily biodegrades in mammalian organisms. However, it is possible to approach the properties of conventional mammalian collagen by cross-linking and lactose treatment, suggesting that fish collagen can be used as a scaffold for cells in regenerative medicine.

Lymphangiogenesis is a predictor of nodal metastasis in extramammary Paget's disease.

AIMS: The depth of dermal invasion, lymphatic invasion and tumour formation are thought to be predictors of nodal metastasis in extramammary Paget's disease (EPD). This study investigated the relationship between lymphangiogenesis and nodal metastasis in EPD. METHODS AND RESULTS: Fifty cases (12 females and 38 males) with primary EPD of the external genitalia whounderwent surgical resection were studied. In 23 cases, inguinal lymph node dissection was performed, and nodal metastasis was found in eight cases. Lymphatic invasion and lymphangiogenesis were evaluated by D2-40 immunostain. Lymphangiogenesis was observed in 25 cases (50%). There were significant differences in the presence or absence of dermal invasion, depth of invasion, lymphatic invasion and nodal metastasis between the lymphangiogenesis group and non-lymphangiogenesis group. CONCLUSION: Dermal invasion and depth of dermal invasion are predictors for nodal metastasis in EPD. However, in the current study, we demonstrate that lymphangiogenesis is also a predictor of nodal metastasis in EPD.

Influence of mixing blood with calcium phosphate bone paste on hardening.

Calcium phosphate bone paste (CPP) has been recently introduced as a reconstructive material in craniofacial surgery. However, we observed that mixing of blood and CPP tended to interfere with CPP hardening. In addition, CPP mixed with blood tended to be absorbed postoperatively. Hence, we used a rabbit model and applied CPP mixed with blood over defects in the skull to investigate the influence of blood on CPP. Calcium phosphate bone paste was mixed with blood for 1 minute and applied to the defects in the calvarial bone of rabbits. At 4 and 24 postoperative weeks, we histologically evaluated morphologic changes in the hydroxyapatite (HA). Our study revealed that HA was not absorbed when a small quantity of blood (15%) was mixed with CPP. However, HA was absorbed almost entirely when a large quantity of blood (30%) was mixed with CPP. In addition, we found that the porosity of HA was increased by the mixture of a small quantity of blood into CPP, and this addition stimulated osteogenesis in HA.

Whole cranial vault expansion by continual occipital and fronto-orbital distraction in syndromic craniosynostosis.

BACKGROUND: In cases of surgery for syndromic craniosynostosis with posterior flattering, it is not possible to achieve sufficient expansion of the skull through fronto-orbital advancement alone. Although it is necessary to expand the occipital region, the surgery is risky and highly invasive. We applied the distraction osteogenesis technique for skull expansion and performed occipital expansion and fronto-orbital advancement in succession. METHODS: Three patients with syndromic craniosynostosis (2 with Crouzon syndrome, 1 with Pfeiffer syndrome) were treated in Juntendo University Hospital between 2002 and 2007. Using the distraction osteogenesis technique, we performed occipital advancement followed immediately by fronto-orbital advancement for 2 cases of Crouzon syndrome and performed fronto-orbital advancement followed by occipital advancement for a case of Pfeiffer syndrome. RESULTS: In all of the cases, we were able to perform bone extension of 25 mm or more and achieve sufficient skull expansion for both of the frontal and occipital regions. Within 1 year after the surgery, in all of the cases, favorable osteogenesis was observed in the distraction gap, and there were no bone defects. DISCUSSION: By using the distraction osteogenesis technique, the difficult procedure of occipital advancement can be performed relatively safely. In addition, as active expansion of the cranium is possible after the surgery, sufficient expansion of the cranium can be successfully performed to a degree that cannot be achieved through conventional methods. New bone is formed in the distraction gap, and there are no bone defects. The present method is extremely useful for skull formation in cases of syndromic craniosynostosis with posterior flattering.

Precut Cast: An Easier and Less Stressful Cast Removal Procedure for Pediatric Patients.

During hospitalization, pediatric patients or their parents may feel stressed. If patients need to stay in the hospital with a cast, they are prone to feeling more stressed. Fixation using a cast is an important clinical option, particularly in the case of skin grafts wherein fixation of the foot and ankle is essential to ensure the survival of the graft skin. However, the removal of the cast is also stressful for patients because it needs to be removed with a cast saw. To avoid further stress in pediatric patients, we cut the cast intraoperatively and then fixed the cast again using nylon cable ties. One week after surgery, we separated the patient's cast. Instead of using a cast saw, we used only scissors or nippers. Our cast removal method was easy, safe, and less stressful.

Cephalic index of Japanese children with normal brain development.

The cephalic index is a method of assessing skull morphology in craniosynostosis. There are known racial differences; however, there are few reports on this index in Japan. In this study, we investigated the cephalic indices of Japanese children with normal brain development using axial slice computed tomography. Children presented to our institution because of head injuries but received no particular diagnosis. One hundred four children with normal brain development (62 males and 42 females) were divided into 7 age categories, namely, 4 categories for those younger than 1 year and 3 categories for those between 1 and 3 years. The cephalic index was calculated according to the following equation: (cephalic width/cephalic length) × 100. The cephalic indices by age groups were as follows: 86.7, 0 to 3 months (n = 21); 87.5, 4 to 6 months (n = 9); 89.2, 7 to 9 months (n = 16); 86.3, 10 to 12 months (n = 9); 85.9, 1 year (n = 25); 86.3, 2 years (n = 15); and 83.7, 3 years (n = 9). In this study, the cephalic indices of Japanese children with normal brain development tended to be more brachycephalic than those of white children, as reported by Haas and Waitzman. Thus, we formulated the classification of current cephalic indices of children with normal brain development in Japan.

The supernumerary nostril.

The supernumerary nostril is a very rare congenital nasal abnormality, and several cases have been reported in the literature since 1906 when the first case was reported by Lindsay. In the other previously reported cases, the supernumerary nostril typically could present unilaterally or bilaterally, and it was therefore called a double nose, with most reported cases being unilateral. At our institution, we encountered a patient with a supernumerary nostril that was located above the left nostril. We thus performed an operation on this supernumerary nostril and obtained good results and a successful postoperative course. We herein present our findings while also discussing the pertinent literature.

Effectiveness of the combination of fat grafting and injection on radiation ulcer healing.

Fat injections aid in the healing of radiation-induced skin damage. We hypothesized that the direct application of fat grafts to the surfaces of radiation-induced ulcers is also effective. Here, we aimed to evaluate the effectiveness of a combination treatment comprising fat injections around ulcers and fat grafts on ulcer surfaces. The dorsal skin of inbred rats was irradiated at a single dose of 20 Gy before producing ulcers. After the inguinal fat was harvested using the Coleman technique, the rats were divided into four groups: Group 1, ulcer wounds were covered using dressing materials and staples only; Group 2, fat was injected around the ulcers using a cannula; Group 3, fat was grafted onto ulcer surfaces; and Group 4, a combination of fat injection around the ulcers and fat grafts onto ulcer surfaces was employed. The mean healing time (± standard deviation) of each group was as follows: Group 1, 16.0 ± 2.2 days; Group 2, 14.5 ± 2.0 days; Group 3, 15.2 ± 1.7 days; and Group 4, 13.4 ± 1.0 days. The healing time of Group 4 was significantly shorter than that of Group 1 (p = .0005) and Group 3 (p = .023). In both groups that received fat grafts, fat tissue was observed in the dermis on hematoxylin-eosin-stained slides at 4 and 8 weeks after the ulcers were created. In conclusion, the combination treatment of fat grafted onto ulcer surfaces and injected around ulcers was effective in accelerating the epithelization of radiation-induced ulcers.

Large Diaphragm Defect Reconstruction Using Reverse Latissimus Dorsi Muscle Flap.

Surgical treatment of bronchobiliary fistula (BBF) is difficult. A 47-year-old woman presented with a cough with yellow yielding sputum due to BBF. The patient had the adhesion of the liver, diaphragm, and lung. We performed liver, diaphragm, and lung resections. Patient had a large defect of diaphragm. Diaphragm reconstruction was performed using a pedicled reverse latissimus dorsi muscle flap. No flap necrosis was observed. Seven months after surgery, the patient did not present yellow yielding sputum and the BBF was not observed in the computed tomography. This surgical procedure was useful for treating the diaphragm defect both safely and easily. We believe that the reverse pedicled latissimus dorsi muscle flap is a reliable alternative for large diaphragm reconstruction after severe BBF.

Consideration of median cleft lip with frenulum labii superior.

Median cleft lip is usually divided into true and false when being discussed. Owing to recent developments of diagnostic imaging methods that have improved the accuracy, the presence of an intermediate type of median cleft lip, which cannot simply be divided into true and false, has been suggested. However, the simple method of classification is still clinically valuable. We have previously reported in this Journal a case of median cleft lip with 2 upper labial frenums. In the present study, based on our experience with false median cleft lip, we set forth a hypothesis that 2 upper labial frenums can be found in true median cleft lip, whereas no upper labial frenum is found in false median cleft lip. A review of the results of previous Japanese cases (7 true and 4 false cases) supported our hypothesis. We also reviewed one of our cases of right cleft lip accompanied by holoprosencephaly and discuss the case from the developmental perspective. The shape of the upper labial frenum may be a factor that can be used for clinically classifying intermediate median cleft lip into either true or false in cases that are otherwise difficult to classify.