SHORT RIB-POLYDACTYLY SYNDROMES (SRPS)

• Autosomal recessive.
• Sporadic (1) or familial (25% risk of recurrence) (2).
• 4 Types are recognized:
• Type I = Saldino-Noonan's syndrome (3).
• Type II = Majewski's syndrome (4).
• Type III = Verma-Naumoff type (5).
• Type IV = Beemer-Langer.

ULTRASOUND

Link to Ultrasound

DIFFERENTIAL DIAGNOSIS

(other skeletal dysplasias with short ribs)

• Ellis-van-Creveld syndrome.
• Asphyxiating thoracic dystrophy (micromelia is mild in comparison to SSPD).

	Jeune syndrome	Ellis–van Creveld syndrome	SRPS type III
Long bones	Moderately shortened	Shortened (rhizomelia)	Severely shortened
Ribs	Short, horizontal		Extremely short, horizontal
Thorax	Mild to severely narrow		Narrow, cylindrically shaped
Hands Feet	Polydactyly of hands and feet (inconstant feature)	All cases: postaxial polydactyly of hands Some cases: dysplasia of fingernails Minority of cases: polydactyly of feet	Postaxial polysyndactyly
Face		Partial harelip (associated with natal teeth)	Flat face
Visceral anomalies	Renal and liver failure starting in infancy	> 50%: heart defect - ASD (primum type) Epispadia Dandy–Walker malformation	Urogenital anomalies (ambiguous genitalia) Hydrops fetalis
X-ray	Short horizontal ribs Trident-shaped pelvis Square iliac wings Horizontal acetabular roofs with medial spurs Proximal femoral ossification centers present at birth (two thirds of the cases)	Wrist: fusion of hamate and capitate bones (characteristic) Trident shaped pelvis Erosion of lateral aspects of the proximal tibial metaphysis	Short horizontal ribs Horizontal trident lower iliac margins Flat acetabulae Severely shortened long bones Widened metaphyses Longitudinal metaphyseal spurs Vertebral abnormalities

Adapted from reference 6.

REFERENCES

1. Benacerraf BR. Prenatal sonographic diagnosis of short-rib polydactyly syndrome type II, Majewski type. J Ultrasound Med 1993;12:552-555.
2. Gembruch U, Hansmann M, Fodisch HJ. Early prenatal diagnosis of short rib-polydactyly (SRP) syndrome type I by ultrasound in a case at risk. Prenat Diagn 1985;5:357.
3. Saldino RM, Noonan CD. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine and multiple visceral anomalies. Am J Roentgenol 1972;114:257-260.
4. Majewski F, Pfeiffer RA, Lenz W et.al. Pilysyndaktylie, Verkurzte Gliendmassen und Genitalfehlbildlungen: Keninzeichen eienes selbsdandigen syndromes? Z Kinderheilkd 1971;111:118-122.
5. Naumoff P, Young CW, Mazar J et.al. Short rib polydactyly syndrome type 3. Radiology 1977;122:433-435.
6. Den Hollander NS, Robben SGF, Hoogeboom AJM et.al. Early prenatal diagnosis and follow up of jeune syndrome. Ultrasound Obstet Gynecol 2001;18:378-383.