Sonographic Prenatal Diagnosis of Ectrodactyly: A Case Study

Ectrodactyly, also known as split hand/split foot malformation, is a rare congenital disease defined as the absence or underdevelopment of the central digits with a median cleft of the hand or foot. It can be an isolated sonographic finding or associated with a syndrome. This case study describes isolated left-handed ectrodactyly diagnosed sonographically at 20 weeks gestation, during a routine anatomy sonogram. The patient had no family history of this condition, which demonstrates the importance of sonography for early diagnosis, counseling, and genetic testing options.

Treatment of Cleft Foot Deformity using Fish Mouth Incision and Suture-Button in Paediatric Foot

Cleft foot is a congenital anomaly characterized by absence of the metatarsal bones and phalanges. It is commonly seen in children with Ectrodactyly-ectrodermal dysplasia and clefting syndrome (EEC) ranging from a median cleft up to the mid metatarsals to a deep cleft up to the tarsal bones. Surgical treatment in the form of cleft closure, excision of the rudimentary metatarsal bone and cross K-wire fixation of metatarsal bones have been tried for the management of such cases. Here, we report a case of one year old child with Type III cleft foot having four metatarsals, who was treated with suture-endobutton system using three transverse tunnels in the 2nd and 3rd metatarsal bones in order to bring them closer. We were able to achieve a satisfactory outcome with a normal fitting shoe wear. Keywords: Cleft foot; suture-button; fish mouth incision.

Median facial cleft syndrome: A case report

Congenital Cleft Lip and Palate is a common birth defect with an incidence of 1 in 600 to 800 live births. This defect usually affects either the left, right or in some cases both sides of the lip and is called a Tessier Type 3 cleft. Clefting of the face in the midline is exceedingly rare and such a case of a Median Facial Cleft Syndrome is being reported which occurs in nearly 1 in 1,000,000 live births. This was first described by Bechard in 1823 and can be sporadic or part of an inherited syndrome. The child had a median cleft of the upper lip, nose, and palate of a severe, complete variety, with absent philtrum of the upper lip, premaxilla, columella, nasal septum and vomer.

Clinical Correction of Complete Median Cleft of the Mandible and Lower Lip: A 17-Year Follow-Up of a Case Report With Literature Review

The median cleft of the mandible and lower lip is an extremely rare congenital maxillofacial deformity, and the therapeutic options are controversial. To evaluate the clinical characteristics and identify a better choice of treatment modes used among us and others, we reviewed 34 relevant literature and herein describe a 17-year follow-up of a case with a median cleft of the mandible and lower lip. Based on the literature and our case with good functional and aesthetical outcomes, we propose a prospective clinical treatment: Patients of Tessier 30 cleft associated with cleft of the mandible could undergo mandibular repair after puberty in conditions of a good occlusal relationship and normal maxillofacial development, even with mild masticatory dysfunction.

Custom-Made Nasal Retainer Using Latex Nelaton Urine Catheter After the Cheiloplasty

Nasal retainers are common tools used in managing patients with cleft lip. The significance of nasal retainer in preventing nostril collapse or stenosis to maintain a symmetrical nose after the surgical procedures is already well known. We came up with a way to create a nasal retainer using a latex nelaton catheter. Custom-made nasal retainer using latex nelaton catheter was used postoperatively on a 10-month-old infant with median cleft lip after cheiloplasty. In postoperative day 7, her nostrils were large enough for premade silicone nasal retainer to fit. She was discharged with instructions given to use the retainer for 6 months. Custom-made nasal retainer can be used as an alternative to premade nasal retainers for patients with wide columella or small nostril cavities, or who cannot afford premade retainers.

Split Hand/Foot Malformation with Long Bone Deficiency: A Report of Two Female Siblings

Spilt Hand/Foot Malformation with Long-bone Deficiency (SHFMLD) is a rare heterogeneous group of limb malformations characterised by absence/hypoplasia and/or median cleft of hands and/or feet associated with long bone abnormalities, most frequently tibia. This case report described two sisters with congenital limb defects born to healthy consanguineous parents. The six-year-old girl did not had both radii and the left fibula. There was a cleft in the left hand and the right foot. She had one digit in her right upper limb, but did not have the left foot. The four-year-old girl had short four limbs, bilateral tibial aplasia with single digit in all limbs. Both parents were normal, and no other similar cases was reported in the family. According to the authors' best knowledge, these two cases are the first published cases in Yemen with the SHFMLD, but they need a genetic study to determine their genetic profile.

Multiple Cephalic Malformations in a Calf

Congenital malformations of the central nervous system (CNS) can affect the CNS alone or the CNS and craniofacial structures. Here, we report an unusual and complex congenital cephalic malformation observed in a 3-day-old male crossbreed calf. Clinical examination disclosed a dome-shaped cranial vault, a flat face with a short snout, a median cleft lip, and increased intraorbital distance. The frontal region of the head was remarkable for a fluctuant, sac-like protrusion covered with haired skin. Neurologic findings suggested a multifocal intracranial lesion affecting the prosencephalon and the central vestibular system. While pathological and histopathological findings posited for a presumptive diagnosis of either hydranencephaly or holoprosencephaly associated with multiple congenital facial abnormalities, not all the findings could be definitely attributed to either of the two encephalic malformations alone. To our knowledge, a similar combination of severe congenital abnormalities affecting both the CNS and the craniofacial structures has not been reported in calves to date.

Pai syndrome: a review

Background Pai syndrome is a rare idiopathic developmental condition characterized by midline craniofacial abnormalities. It was originally described as the presence of a median cleft lip, cutaneous polyps of the nasal mucosa and face, and midline lipomas of the central nervous system, mostly at the corpus callosum. However, there is great phenotypical variability and these characteristics are rarely all present at once. Objective The aim of this review was to analyze the available evidence regarding Pai syndrome in order to better delineate this rare condition and its features. Methods We analyzed the PubMed database using the words “Pai syndrome”, “frontonasal dysplasia”, “cleft lip”, “nasal polyp”, “facial polyp”, and “corpus callosum lipoma”, including reviews, case reports and case series. Conclusion There is no consensus regarding the diagnostic criteria of Pai syndrome up to date. It is usually diagnosed at birth, and its incidence is often underestimated. At present, the etiology of Pai syndrome is unknown. Several hypotheses regarding its genetic background have been made; however, there are not enough data yet to elucidate this point. An improved awareness could help in diagnosing the condition and performing the necessary investigations. These patients should have a multidisciplinary follow-up.

True Median Cleft Lip—15 Years of Review and Prevalence

Objectives: The author presents 4 cases and attempts to analyze the prevalence of true median cleft lip (MCL) in one center. Embryology, associated anomalies, and surgical treatment are discussed. Design: A retrospective descriptive study. Setting: Hospital Universiti Sains Malaysia. Participants: All patients with congenital facial cleft deformities from 2005 to 2019 were retrieved from the Plastic Surgery OR Registry. All characteristics in interest were individually tabulated and evaluated. Four cases were reviewed and discussed. Outcome: Prevalence of true MCL. Results: Out of the 494 patients included in the study, only 4 (0.81%) were affected with a median cleft, and the prevalence of true median cleft was hence determined to be 3 (0.61%) among the cleft population. Conclusion: The prevalence of the true MCL is rare which makes it hard to categorize these clefts, and the surgical protocol needs to be established for the definitive treatment.