Birth defects skeletal muscular system part of the disease

  Clubfoot
  Definition: Clubfoot is a condition in which the foot is deviated from the midline from the ankle, turned medially, and fixed in this position.
  Diagnostic points.
  1. It is the most common congenital deformity of the foot. The incidence is about 1:250-1000, slightly more unilateral than bilateral, and twice as common in males as in females.
  2, Intrauterine ultrasound sonogram shows both calf and foot in longitudinal position of calf.
  3.The clinical manifestation is inversion of the forefoot, high arch of the midfoot, hindfoot with horseshoe inversion, and in severe cases, the heel becomes small and there is a skin fold above it.
  4.It can be combined with internal rotation of tibia and triceps atrophy.
  5.More often seen in some syndromes such as 18-trisomy and dyskinesia fetal malformation.
  Description points.
  1, forefoot inversion and inversion, midfoot high arch, hindfoot horseshoe inversion, in severe cases the heel becomes small, and there is skin fold above it.
  2, can be combined with internal rotation of the tibia and triceps atrophy.
  Radiographic requirements.
  1.Orthopantomogram: the whole picture below the abdomen including both lower limbs.
  2.Lateral film: full view of one foot.
  Polydactyly (toe)
  Definition: One or more extra fingers (toes) or finger (toe)-like abnormalities on the hand or foot.
  Diagnostic points.
  1, can be unilateral or bilateral. It is divided into pre-axial (radial or tibial) and post-axial (ulnar or peroneal) types according to the location, with the post-axial type being more common. It can be combined with concurrent finger (toe) or broken finger (toe) and other deformities.
  2.Single multi-finger (toe) deformity is mostly autosomal dominant and can be a symptom of many syndromes such as trisomy 13.
  3, clinical classification: simple soft tissue, with or without annular depression tissue connected to the surrounding tissue; more complete finger (toe) shape, often with only one or two knuckles, can constitute a joint with the metacarpal (metatarsal) bone or a lobulated bony connection; redundant finger (toe), nearly normal appearance, with finger (toe) nail, and some poorly developed metacarpal (metatarsal) bone. The extra fingers (toes) are sometimes the same size as the normal fingers (toes) and are difficult to distinguish from the outside, the extra fingers (toes) can also be smaller and can form branching fingers (toes).
  Intrauterine ultrasonography can show one or more extra fingers (toes) on the hand or foot, and x-ray examination can clarify bone and joint abnormalities.
  Descriptive points.
  1, pure soft tissue, with or without annular depressed tissue attached to the surrounding tissue.
  2, more complete finger (toe) in appearance, often with only one or two phalanges, which may form a joint with the metacarpal (metatarsal) bones or have a lobulated bony connection.
  3, redundant fingers (toes) with a nearly normal appearance, with finger (toe) nails and some poorly developed metacarpal (metatarsal) bones. The extra fingers (toes) are sometimes the same size as the normal fingers (toes) and are difficult to distinguish from the outside, and the extra fingers (toes) may be smaller and may form branching fingers (toes).
  Radiographic requirements.
  1. Orthopantomographs: Unilateral or bilateral spread photographs of the hand or foot with multiple fingers (toes).
  Parallel fingers (toes)
  Definition: Excess skin between fingers (toes) and fingers (toes) is connected, and soft skin tissue or bone tissue is often connected.
  Diagnostic points.
  1. Commonly found between the 2nd and 3rd fingers.
  2, clinical manifestations: soft tissue and finger (toe), the lighter only a thin layer of skin webbing; more severe multiple finger (toe) skin or subcutaneous soft tissue connected, and finger (toe) nail separate; severe cases of each finger (toe) combined, some bone segmentation incomplete and joint deformity, or the end finger (toe) bone and nail fusion.
  The diagnosis can be made by intrauterine ultrasound when the fetal hand is unfolded during fetal movement, but sometimes the ultrasound still cannot make the diagnosis.
  4. There is often a family history of this disease, which is autosomal dominant.
  Descriptive points.
  1. in soft tissue juxtaposition of fingers (toes), in mild cases only a thin skin webbing is present.
  2. In severe cases, the skin or subcutaneous soft tissues of several fingers (toes) are connected, while the fingernails are separated.
  3. In severe cases, the fingers (toes) are combined and some bones are incompletely segmented and have deformed joints, or the end finger (toe) bones and nails are fused.
  The requirements of the film
  1, orthoptic film: and fingers (toes) hand or foot unilateral or bilateral photos.
  Limb shortening
  Definition: Also known as limb loss. Complete or partial absence of one or more limbs, or severe dysplasia.
  Diagnostic points: The severity of the deformity varies and can involve unilateral, bilateral or all four limbs.
  1. Lateral limb loss: also called amputation deformity. All or part of the distal limb is absent, and the proximal end is basically normal. According to the site of occurrence, it is divided into: upper arm (thigh), forearm (calf), wrist (tarsus), palm (metatarsus), and finger (toe) completely or partially missing. Missing fingers (toes) belong to this category.
  2, longitudinal limb loss: partial or complete absence or severe dysplasia of the longitudinal column of the radial (tibial) or ulnar (fibular) side of the limb, or absence of the central longitudinal column of the hand (foot), forming a cleft hand (foot). Radial hypoplasia or agenesis is the most common, often accompanied by thumb agenesis.
  3, intermediate limb deficiency: also known as “seal deformity”. The distal end of the limb is basically normal, the middle long bone is absent, and the hand (foot) is often deformed. Clinically, it can be divided into: complete seal hand (foot), the entire upper arm (thigh), forearm (calf) is completely absent, hand (or foot) directly attached to the trunk; proximal seal hand (foot), upper arm (thigh) is absent, forearm (calf) directly attached to the trunk; ③ distal seal hand (foot), forearm (calf) is absent, hand (foot) directly attached to the end of the upper arm (thigh).
  4.Mixed type: several types of deformities mentioned above exist at the same time.
  5.Limb deficiency can exist alone or be one of the manifestations of some syndromes. It is associated with autosomal dominant or autosomal recessive inheritance and exposure to certain drugs during early pregnancy.
  Descriptive points.
  1. Lateral limb loss: the distal limb is completely or partially absent, while the proximal limb is basically normal. It can be classified as: complete or partial absence of upper arm (thigh), forearm (calf), wrist (tarsus), palm (metatarsus), and fingers (toes). Missing fingers (toes) belong to this category.
  2.Longitudinal limb loss: partial or complete absence or severe dysplasia of the longitudinal column of the radial (tibial) or ulnar (fibular) side of the limb, or absence of the central longitudinal column of the hand (foot), forming a cleft hand (foot), often accompanied by absence of the thumb.
  3.Intermediate limb deficiency: also called “seal deformity”. The distal part of the limb is basically normal, but the middle part of the long bone is absent, and the hand (foot) is often deformed. It can be divided into: complete seal hand (foot), the entire upper arm (thigh), forearm (calf) completely absent, hand (or foot) directly attached to the trunk; proximal seal hand (foot), the upper arm (thigh) is absent, forearm (calf) directly attached to the trunk; distal seal hand (foot), forearm (calf) is absent, hand (foot) directly attached to the end of the upper arm (thigh).
  4.Mixed type: several types of deformities mentioned above exist at the same time.
  Film requirements.
  1.Orthopantomographs: including whole body and local photographs of limb shortening.
  2.Lateral film: local photo of limb shortening.
  Diaphragmatic hernia
  Definition: The contents of the abdominal cavity enter the thoracic cavity through a fissure or defect in the transverse septum. Incidence rate neonatal 1:2000 to 1:3000.
  Diagnostic points.
  1. Developmental defects of the diaphragm are classified into four types according to their locations: posterior lateral hernia of the thoracoabdominal fissure, parasternal hernia, diaphragmatic expansion and esophageal fissure hernia, of which the left thoracoabdominal fissure hernia is the most common.
  2. The stomach, intestinal canal and spleen can herniate into the thoracic cavity, which may be accompanied by one or both lung dysplasia and the heart being squeezed into the right side of the thoracic cavity.
  3. Intrauterine ultrasound diagnosis: sonogram shows an intra-thoracic occupying lesion, which is more common on the left side. A large number of abdominal organs enter the thoracic cavity, and a reduction in abdominal circumference may occur. Severe mediastinal displacement of the fetus may cause fetal edema. It should be differentiated from other cystic lesions in the chest.
  4. Frontal and lateral X-ray of the chest and abdomen shows the disappearance of the left diaphragm shadow and the presence of intestinal and gastric vesicles in the chest cavity.
  5. The prognosis is related to the time of diaphragmatic hernia, the amount of organs herniated into the thoracic cavity, the degree of pulmonary insufficiency and combined malformations.
  Key points of description.
  1. The newborn has a flattened abdomen, a “boat-shaped abdomen” after birth, respiratory distress, and cyanosis.
  2, frontal and lateral X-ray of the chest and abdomen showed the disappearance of the left diaphragm shadow, the thoracic cavity with intestinal and gastric vesicle shadow.
  3, in the right side of the thoracoabdominal hiatal hernia, liver, etc. into the right side of the chest cavity, can also cause the above symptoms.
  Radiographic requirements.
  1.Orthopantomogram: whole body photograph of the newborn.
  Umbilical bulge
  Definition: A defect in the midline of the abdominal wall including muscles, fascia and skin, with the contents of the abdominal cavity protruding into the umbilical cord and covered with peritoneum and amnion. Incidence 1:4000 to 1:5800.
  Diagnostic points.
  1.According to the diameter of the umbilical defect in the abdominal wall <2,5cm, 2,5-5,0cm or >5cm, it is divided into type I, type II and type III.
  2. At birth, muscle and skin defects around the umbilical cord can be seen in the midline, resulting in the peritoneum and abdominal organs expanding out of the body through the defect, and the surface of the herniated object is covered by a translucent cystic membrane composed of inner peritoneum and outer amnion, and the abdominal organs (intestinal tubes and liver, etc.) can be seen through the membrane, so it is called “glass abdomen”.
  3, after birth, the thin cystic membrane is prone to rupture, and should be differentially diagnosed with abdominal cleft deformity, which is normal at the insertion of the umbilical cord into the abdominal wall.
  4, intrauterine ultrasound shows the anterior abdominal wall mass, containing simple intestinal tube or simple liver echogenicity.
  5, umbilical bulge can occur alone or as a manifestation of some syndromes, such as umbilical bulge-macroglossia-macrosomia syndrome (Beck-with-Widedmann, EMG syndrome), 13-trisomy syndrome, etc.
  6. Some maternal blood AFP values are elevated.
  Descriptive points.
  1. The neonate has a defect in the muscle and skin around the umbilical cord in the midline, which causes the peritoneum and abdominal organs to bulge out of the body through the defect, and the surface of the hernia is covered by a translucent cystic membrane consisting of the inner peritoneum and the outer amnion, and the abdominal organs (intestinal canal and liver, etc.) can be seen through the membrane.
  2. The thin cystic membrane is prone to rupture after birth and should be differentially diagnosed with ventral cleft deformity, which is normal at the insertion of the umbilical cord into the abdominal wall.
  Filming requirements.
  1.Orthopantomogram: frontal view of the whole body of the newborn, try not to break the membrane of the sac, and focus on the images of the root of the umbilicus and the contents of the hernia sac.
  2. Lateral view: focus on the root of the umbilicus and the contents of the hernia sac.
  Ventral fissure
  Definition: A total defect of the abdominal wall adjacent to the umbilicus with protrusion of the abdominal viscera. Incidence 1:10,000 to 1:150,000.
  Diagnostic points.
  1, Most of them are disseminated, with few chromosomal abnormalities.
  2. The full-layer defect of the abdominal wall next to the umbilicus is normal where the umbilical cord is attached to the abdominal wall, the defect is mostly on the right side, and the defect tends to be small, mostly between 2-4 cm.
  3, longitudinal defect in the abdominal wall on the side of the normal umbilical cord, the stomach, small and large intestine, occasionally the bladder or uterus bulges out of the body through this defect, without hernia sac coverage and without liver bulge. The bulging intestinal wall is hypertrophic, edematous, adherent, with purple intestinal tube and no intestinal peristalsis, and in a few cases the intestinal tube is necrotic. Often combined with intestinal malrotation, atresia and other malformations.
  4, intrauterine ultrasound shows often located in the umbilical root of the right abdominal wall defect, the gap is small, the protrusion is mostly intestinal tube official cavity can be mildly dilated. The fetal abdominal circumference may become smaller when a large number of intestinal tubes protrude.
  5.The maternal blood AFP value is elevated.
  6. It needs to be differentiated from umbilical bulge, body tissues anomaly and cloacal exstrophy, the latter two of which are huge abdominal wall defects.
  Descriptive points.
  1, there is a longitudinal defect of about 2-3 cm in the abdominal wall on the side of the normal umbilical cord, the stomach, small and large intestine, occasionally the bladder or uterus is bulging out of the body through this defect, there is no hernia sac coverage, no liver bulge.
  2, the bulging intestinal wall hypertrophy, edema, adhesions, intestinal tube purple color, no intestinal peristalsis, a few cases of intestinal tube has been necrosis. Often combined with often poor rotation, atresia and other deformities.
  3, abdominal defect and umbilical cord with narrow normal skin between, that side of the rectus abdominis muscle is underdeveloped, umbilicus and umbilical cord normal. The right abdominal cleft is more common than the left, and a single abdominal cleft deformity is more common.
  Radiographic requirements.
  1, orthopantomogram: whole body photograph of the newborn, focusing on the relationship between the root of the umbilical cord and the location of the abdominal cleft, and the abdominal bulge should not be retracted.
  Foot valgus
  Definition: full foot dorsiflexion and valgus.
  Diagnostic points.
  1, the dorsal and lateral side of the foot (scarlet side of the ankle) soft tissue is mildly tense resulting in limited inversion of toe flexion.
  2. The heel of the foot is in the valgus position.
  3. There are often deep skin folds and reduced subcutaneous tissues in the abnormal anterolateral position of the foot.
  4, can be accompanied by flat feet, knee extension contracture, oblique neck, etc., and in severe cases, the tibia and fibula appear curved.
  5, intrauterine by the influence of fetal posture, foot ectropion is difficult to diagnose by ultrasound imaging.
  Descriptive points.
  1, the heel is in an exotropic position.
  2, there is often a deep skin fold in the abnormal location of the anterolateral foot, and the subcutaneous tissue is reduced.
  Radiographic requirements.
  1, orthopantomogram: the whole body generally includes the deformed part of the foot exostosis.